Name: rs1483776959
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1483776959

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:113369587 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: C>A / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.000007 (1/140250, GnomAD)
G=0.00007 (1/14050, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ANK2 : Missense Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	HTRZ	HWEP
Total	Global	14050	C=0.99993	G=0.00007, T=0.00000	0.999858	0.000142	0
European	Sub	9690	C=1.0000	G=0.0000, T=0.0000	1.0	0.0	N/A
African	Sub	2898	C=0.9997	G=0.0003, T=0.0000	0.99931	0.00069	0
African Others	Sub	114	C=1.000	G=0.000, T=0.000	1.0	0.0	N/A
African American	Sub	2784	C=0.9996	G=0.0004, T=0.0000	0.999282	0.000718	0
Asian	Sub	112	C=1.000	G=0.000, T=0.000	1.0	0.0	N/A
East Asian	Sub	86	C=1.00	G=0.00, T=0.00	1.0	0.0	N/A
Other Asian	Sub	26	C=1.00	G=0.00, T=0.00	1.0	0.0	N/A
Latin American 1	Sub	146	C=1.000	G=0.000, T=0.000	1.0	0.0	N/A
Latin American 2	Sub	610	C=1.000	G=0.000, T=0.000	1.0	0.0	N/A
South Asian	Sub	98	C=1.00	G=0.00, T=0.00	1.0	0.0	N/A
Other	Sub	496	C=1.000	G=0.000, T=0.000	1.0	0.0	N/A

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
gnomAD - Genomes	Global	Study-wide	140250	C=0.999993	G=0.000007
gnomAD - Genomes	European	Sub	75948	C=1.00000	G=0.00000
gnomAD - Genomes	African	Sub	42042	C=0.99998	G=0.00002
gnomAD - Genomes	American	Sub	13650	C=1.00000	G=0.00000
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=1.0000	G=0.0000
gnomAD - Genomes	East Asian	Sub	3134	C=1.0000	G=0.0000
gnomAD - Genomes	Other	Sub	2154	C=1.0000	G=0.0000
Allele Frequency Aggregator	Total	Global	14050	C=0.99993	G=0.00007, T=0.00000
Allele Frequency Aggregator	European	Sub	9690	C=1.0000	G=0.0000, T=0.0000
Allele Frequency Aggregator	African	Sub	2898	C=0.9997	G=0.0003, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	610	C=1.000	G=0.000, T=0.000
Allele Frequency Aggregator	Other	Sub	496	C=1.000	G=0.000, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	C=1.000	G=0.000, T=0.000
Allele Frequency Aggregator	Asian	Sub	112	C=1.000	G=0.000, T=0.000
Allele Frequency Aggregator	South Asian	Sub	98	C=1.00	G=0.00, T=0.00

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 4	NC_000004.12:g.113369587C>A
GRCh38.p14 chr 4	NC_000004.12:g.113369587C>G
GRCh38.p14 chr 4	NC_000004.12:g.113369587C>T
GRCh37.p13 chr 4	NC_000004.11:g.114290743C>A
GRCh37.p13 chr 4	NC_000004.11:g.114290743C>G
GRCh37.p13 chr 4	NC_000004.11:g.114290743C>T
ANK2 RefSeqGene (LRG_327)	NG_009006.2:g.556505C>A
ANK2 RefSeqGene (LRG_327)	NG_009006.2:g.556505C>G
ANK2 RefSeqGene (LRG_327)	NG_009006.2:g.556505C>T

Gene: ANK2, ankyrin 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ANK2 transcript variant 1	NM_001148.6:c.11392C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 1	NP_001139.3:p.Pro3798Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 1	NM_001148.6:c.11392C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 1	NP_001139.3:p.Pro3798Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 1	NM_001148.6:c.11392C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 1	NP_001139.3:p.Pro3798Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 69	NM_001386162.1:c.4951C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 43	NP_001373091.1:p.Pro1651T… NP_001373091.1:p.Pro1651Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 69	NM_001386162.1:c.4951C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 43	NP_001373091.1:p.Pro1651A… NP_001373091.1:p.Pro1651Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 69	NM_001386162.1:c.4951C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 43	NP_001373091.1:p.Pro1651S… NP_001373091.1:p.Pro1651Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 62	NM_001386156.1:c.4876C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 62	NP_001373085.1:p.Pro1626T… NP_001373085.1:p.Pro1626Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 62	NM_001386156.1:c.4876C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 62	NP_001373085.1:p.Pro1626A… NP_001373085.1:p.Pro1626Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 62	NM_001386156.1:c.4876C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 62	NP_001373085.1:p.Pro1626S… NP_001373085.1:p.Pro1626Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 56	NM_001386149.1:c.4918C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 56	NP_001373078.1:p.Pro1640T… NP_001373078.1:p.Pro1640Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 56	NM_001386149.1:c.4918C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 56	NP_001373078.1:p.Pro1640A… NP_001373078.1:p.Pro1640Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 56	NM_001386149.1:c.4918C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 56	NP_001373078.1:p.Pro1640S… NP_001373078.1:p.Pro1640Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 68	NM_001386161.1:c.5071C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 25	NP_001373090.1:p.Pro1691T… NP_001373090.1:p.Pro1691Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 68	NM_001386161.1:c.5071C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 25	NP_001373090.1:p.Pro1691A… NP_001373090.1:p.Pro1691Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 68	NM_001386161.1:c.5071C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 25	NP_001373090.1:p.Pro1691S… NP_001373090.1:p.Pro1691Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 66	NM_001386167.1:c.1537C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 66	NP_001373096.1:p.Pro513Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 66	NM_001386167.1:c.1537C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 66	NP_001373096.1:p.Pro513Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 66	NM_001386167.1:c.1537C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 66	NP_001373096.1:p.Pro513Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 67	NM_001386160.1:c.4981C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 71	NP_001373089.1:p.Pro1661T… NP_001373089.1:p.Pro1661Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 67	NM_001386160.1:c.4981C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 71	NP_001373089.1:p.Pro1661A… NP_001373089.1:p.Pro1661Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 67	NM_001386160.1:c.4981C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 71	NP_001373089.1:p.Pro1661S… NP_001373089.1:p.Pro1661Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 58	NM_001386151.1:c.4852C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 58	NP_001373080.1:p.Pro1618T… NP_001373080.1:p.Pro1618Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 58	NM_001386151.1:c.4852C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 58	NP_001373080.1:p.Pro1618A… NP_001373080.1:p.Pro1618Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 58	NM_001386151.1:c.4852C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 58	NP_001373080.1:p.Pro1618S… NP_001373080.1:p.Pro1618Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 65	NM_001386166.1:c.7792C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 65	NP_001373095.1:p.Pro2598T… NP_001373095.1:p.Pro2598Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 65	NM_001386166.1:c.7792C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 65	NP_001373095.1:p.Pro2598A… NP_001373095.1:p.Pro2598Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 65	NM_001386166.1:c.7792C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 65	NP_001373095.1:p.Pro2598S… NP_001373095.1:p.Pro2598Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 53	NM_001386146.1:c.4918C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 53	NP_001373075.1:p.Pro1640T… NP_001373075.1:p.Pro1640Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 53	NM_001386146.1:c.4918C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 53	NP_001373075.1:p.Pro1640A… NP_001373075.1:p.Pro1640Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 53	NM_001386146.1:c.4918C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 53	NP_001373075.1:p.Pro1640S… NP_001373075.1:p.Pro1640Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 63	NM_001386157.1:c.4753C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 63	NP_001373086.1:p.Pro1585T… NP_001373086.1:p.Pro1585Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 63	NM_001386157.1:c.4753C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 63	NP_001373086.1:p.Pro1585A… NP_001373086.1:p.Pro1585Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 63	NM_001386157.1:c.4753C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 63	NP_001373086.1:p.Pro1585S… NP_001373086.1:p.Pro1585Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 51	NM_001386143.1:c.5074C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 51	NP_001373072.1:p.Pro1692T… NP_001373072.1:p.Pro1692Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 51	NM_001386143.1:c.5074C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 51	NP_001373072.1:p.Pro1692A… NP_001373072.1:p.Pro1692Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 51	NM_001386143.1:c.5074C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 51	NP_001373072.1:p.Pro1692S… NP_001373072.1:p.Pro1692Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 50	NM_001386142.1:c.11158C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 50	NP_001373071.1:p.Pro3720T… NP_001373071.1:p.Pro3720Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 50	NM_001386142.1:c.11158C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 50	NP_001373071.1:p.Pro3720A… NP_001373071.1:p.Pro3720Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 50	NM_001386142.1:c.11158C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 50	NP_001373071.1:p.Pro3720S… NP_001373071.1:p.Pro3720Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 52	NM_001386144.1:c.5182C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 52	NP_001373073.1:p.Pro1728T… NP_001373073.1:p.Pro1728Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 52	NM_001386144.1:c.5182C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 52	NP_001373073.1:p.Pro1728A… NP_001373073.1:p.Pro1728Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 52	NM_001386144.1:c.5182C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 52	NP_001373073.1:p.Pro1728S… NP_001373073.1:p.Pro1728Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 2	NM_020977.5:c.5137C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 2	NP_066187.2:p.Pro1713Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 2	NM_020977.5:c.5137C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 2	NP_066187.2:p.Pro1713Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 2	NM_020977.5:c.5137C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 2	NP_066187.2:p.Pro1713Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 57	NM_001386150.1:c.4918C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 57	NP_001373079.1:p.Pro1640T… NP_001373079.1:p.Pro1640Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 57	NM_001386150.1:c.4918C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 57	NP_001373079.1:p.Pro1640A… NP_001373079.1:p.Pro1640Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 57	NM_001386150.1:c.4918C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 57	NP_001373079.1:p.Pro1640S… NP_001373079.1:p.Pro1640Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 59	NM_001386152.1:c.5194C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 59	NP_001373081.1:p.Pro1732T… NP_001373081.1:p.Pro1732Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 59	NM_001386152.1:c.5194C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 59	NP_001373081.1:p.Pro1732A… NP_001373081.1:p.Pro1732Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 59	NM_001386152.1:c.5194C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 59	NP_001373081.1:p.Pro1732S… NP_001373081.1:p.Pro1732Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 60	NM_001386153.1:c.4918C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 60	NP_001373082.1:p.Pro1640T… NP_001373082.1:p.Pro1640Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 60	NM_001386153.1:c.4918C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 60	NP_001373082.1:p.Pro1640A… NP_001373082.1:p.Pro1640Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 60	NM_001386153.1:c.4918C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 60	NP_001373082.1:p.Pro1640S… NP_001373082.1:p.Pro1640Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 61	NM_001386154.1:c.4903C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 61	NP_001373083.1:p.Pro1635T… NP_001373083.1:p.Pro1635Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 61	NM_001386154.1:c.4903C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 61	NP_001373083.1:p.Pro1635A… NP_001373083.1:p.Pro1635Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 61	NM_001386154.1:c.4903C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 61	NP_001373083.1:p.Pro1635S… NP_001373083.1:p.Pro1635Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 3	NM_001127493.3:c.5110C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 3	NP_001120965.1:p.Pro1704T… NP_001120965.1:p.Pro1704Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 3	NM_001127493.3:c.5110C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 3	NP_001120965.1:p.Pro1704A… NP_001120965.1:p.Pro1704Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 3	NM_001127493.3:c.5110C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 3	NP_001120965.1:p.Pro1704S… NP_001120965.1:p.Pro1704Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 54	NM_001386147.1:c.4963C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 54	NP_001373076.1:p.Pro1655T… NP_001373076.1:p.Pro1655Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 54	NM_001386147.1:c.4963C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 54	NP_001373076.1:p.Pro1655A… NP_001373076.1:p.Pro1655Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 54	NM_001386147.1:c.4963C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 54	NP_001373076.1:p.Pro1655S… NP_001373076.1:p.Pro1655Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 64	NM_001386158.1:c.4654C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 64	NP_001373087.1:p.Pro1552T… NP_001373087.1:p.Pro1552Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 64	NM_001386158.1:c.4654C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 64	NP_001373087.1:p.Pro1552A… NP_001373087.1:p.Pro1552Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 64	NM_001386158.1:c.4654C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 64	NP_001373087.1:p.Pro1552S… NP_001373087.1:p.Pro1552Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 26	NM_001354257.2:c.4876C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 26	NP_001341186.1:p.Pro1626T… NP_001341186.1:p.Pro1626Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 26	NM_001354257.2:c.4876C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 26	NP_001341186.1:p.Pro1626A… NP_001341186.1:p.Pro1626Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 26	NM_001354257.2:c.4876C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 26	NP_001341186.1:p.Pro1626S… NP_001341186.1:p.Pro1626Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 21	NM_001354252.2:c.5107C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 21	NP_001341181.1:p.Pro1703T… NP_001341181.1:p.Pro1703Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 21	NM_001354252.2:c.5107C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 21	NP_001341181.1:p.Pro1703A… NP_001341181.1:p.Pro1703Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 21	NM_001354252.2:c.5107C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 21	NP_001341181.1:p.Pro1703S… NP_001341181.1:p.Pro1703Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 16	NM_001354243.2:c.5074C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 16	NP_001341172.1:p.Pro1692T… NP_001341172.1:p.Pro1692Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 16	NM_001354243.2:c.5074C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 16	NP_001341172.1:p.Pro1692A… NP_001341172.1:p.Pro1692Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 16	NM_001354243.2:c.5074C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 16	NP_001341172.1:p.Pro1692S… NP_001341172.1:p.Pro1692Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 12	NM_001354239.2:c.5107C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 12	NP_001341168.1:p.Pro1703T… NP_001341168.1:p.Pro1703Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 12	NM_001354239.2:c.5107C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 12	NP_001341168.1:p.Pro1703A… NP_001341168.1:p.Pro1703Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 12	NM_001354239.2:c.5107C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 12	NP_001341168.1:p.Pro1703S… NP_001341168.1:p.Pro1703Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 20	NM_001354249.2:c.4951C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 20	NP_001341178.1:p.Pro1651T… NP_001341178.1:p.Pro1651Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 20	NM_001354249.2:c.4951C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 20	NP_001341178.1:p.Pro1651A… NP_001341178.1:p.Pro1651Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 20	NM_001354249.2:c.4951C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 20	NP_001341178.1:p.Pro1651S… NP_001341178.1:p.Pro1651Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 71	NM_001386175.1:c.11509C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 68	NP_001373104.1:p.Pro3837T… NP_001373104.1:p.Pro3837Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 71	NM_001386175.1:c.11509C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 68	NP_001373104.1:p.Pro3837A… NP_001373104.1:p.Pro3837Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 71	NM_001386175.1:c.11509C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 68	NP_001373104.1:p.Pro3837S… NP_001373104.1:p.Pro3837Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 70	NM_001386174.1:c.11533C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 67	NP_001373103.1:p.Pro3845T… NP_001373103.1:p.Pro3845Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 70	NM_001386174.1:c.11533C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 67	NP_001373103.1:p.Pro3845A… NP_001373103.1:p.Pro3845Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 70	NM_001386174.1:c.11533C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 67	NP_001373103.1:p.Pro3845S… NP_001373103.1:p.Pro3845Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 19	NM_001354246.2:c.5134C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 19	NP_001341175.1:p.Pro1712T… NP_001341175.1:p.Pro1712Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 19	NM_001354246.2:c.5134C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 19	NP_001341175.1:p.Pro1712A… NP_001341175.1:p.Pro1712Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 19	NM_001354246.2:c.5134C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 19	NP_001341175.1:p.Pro1712S… NP_001341175.1:p.Pro1712Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 25	NM_001354256.2:c.5071C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 25	NP_001341185.1:p.Pro1691T… NP_001341185.1:p.Pro1691Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 25	NM_001354256.2:c.5071C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 25	NP_001341185.1:p.Pro1691A… NP_001341185.1:p.Pro1691Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 25	NM_001354256.2:c.5071C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 25	NP_001341185.1:p.Pro1691S… NP_001341185.1:p.Pro1691Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 28	NM_001354260.2:c.4852C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 28	NP_001341189.1:p.Pro1618T… NP_001341189.1:p.Pro1618Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 28	NM_001354260.2:c.4852C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 28	NP_001341189.1:p.Pro1618A… NP_001341189.1:p.Pro1618Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 28	NM_001354260.2:c.4852C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 28	NP_001341189.1:p.Pro1618S… NP_001341189.1:p.Pro1618Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 29	NM_001354261.2:c.4996C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 29	NP_001341190.1:p.Pro1666T… NP_001341190.1:p.Pro1666Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 29	NM_001354261.2:c.4996C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 29	NP_001341190.1:p.Pro1666A… NP_001341190.1:p.Pro1666Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 29	NM_001354261.2:c.4996C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 29	NP_001341190.1:p.Pro1666S… NP_001341190.1:p.Pro1666Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 30	NM_001354262.2:c.4975C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 30	NP_001341191.1:p.Pro1659T… NP_001341191.1:p.Pro1659Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 30	NM_001354262.2:c.4975C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 30	NP_001341191.1:p.Pro1659A… NP_001341191.1:p.Pro1659Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 30	NM_001354262.2:c.4975C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 30	NP_001341191.1:p.Pro1659S… NP_001341191.1:p.Pro1659Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 35	NM_001354268.2:c.4939C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 35	NP_001341197.1:p.Pro1647T… NP_001341197.1:p.Pro1647Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 35	NM_001354268.2:c.4939C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 35	NP_001341197.1:p.Pro1647A… NP_001341197.1:p.Pro1647Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 35	NM_001354268.2:c.4939C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 35	NP_001341197.1:p.Pro1647S… NP_001341197.1:p.Pro1647Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 42	NM_001354275.2:c.4975C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 42	NP_001341204.1:p.Pro1659T… NP_001341204.1:p.Pro1659Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 42	NM_001354275.2:c.4975C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 42	NP_001341204.1:p.Pro1659A… NP_001341204.1:p.Pro1659Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 42	NM_001354275.2:c.4975C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 42	NP_001341204.1:p.Pro1659S… NP_001341204.1:p.Pro1659Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 49	NM_001354282.2:c.2701C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 49	NP_001341211.1:p.Pro901Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 49	NM_001354282.2:c.2701C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 49	NP_001341211.1:p.Pro901Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 49	NM_001354282.2:c.2701C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 49	NP_001341211.1:p.Pro901Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 4	NM_001354225.2:c.5149C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 4	NP_001341154.1:p.Pro1717T… NP_001341154.1:p.Pro1717Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 4	NM_001354225.2:c.5149C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 4	NP_001341154.1:p.Pro1717A… NP_001341154.1:p.Pro1717Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 4	NM_001354225.2:c.5149C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 4	NP_001341154.1:p.Pro1717S… NP_001341154.1:p.Pro1717Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 5	NM_001354228.2:c.5038C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 5	NP_001341157.1:p.Pro1680T… NP_001341157.1:p.Pro1680Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 5	NM_001354228.2:c.5038C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 5	NP_001341157.1:p.Pro1680A… NP_001341157.1:p.Pro1680Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 5	NM_001354228.2:c.5038C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 5	NP_001341157.1:p.Pro1680S… NP_001341157.1:p.Pro1680Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 6	NM_001354230.2:c.5116C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 6	NP_001341159.1:p.Pro1706T… NP_001341159.1:p.Pro1706Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 6	NM_001354230.2:c.5116C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 6	NP_001341159.1:p.Pro1706A… NP_001341159.1:p.Pro1706Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 6	NM_001354230.2:c.5116C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 6	NP_001341159.1:p.Pro1706S… NP_001341159.1:p.Pro1706Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 7	NM_001354231.2:c.5179C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 7	NP_001341160.1:p.Pro1727T… NP_001341160.1:p.Pro1727Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 7	NM_001354231.2:c.5179C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 7	NP_001341160.1:p.Pro1727A… NP_001341160.1:p.Pro1727Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 7	NM_001354231.2:c.5179C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 7	NP_001341160.1:p.Pro1727S… NP_001341160.1:p.Pro1727Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 13	NM_001354240.2:c.5182C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 13	NP_001341169.1:p.Pro1728T… NP_001341169.1:p.Pro1728Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 13	NM_001354240.2:c.5182C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 13	NP_001341169.1:p.Pro1728A… NP_001341169.1:p.Pro1728Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 13	NM_001354240.2:c.5182C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 13	NP_001341169.1:p.Pro1728S… NP_001341169.1:p.Pro1728Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 8	NM_001354232.2:c.5173C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 8	NP_001341161.1:p.Pro1725T… NP_001341161.1:p.Pro1725Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 8	NM_001354232.2:c.5173C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 8	NP_001341161.1:p.Pro1725A… NP_001341161.1:p.Pro1725Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 8	NM_001354232.2:c.5173C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 8	NP_001341161.1:p.Pro1725S… NP_001341161.1:p.Pro1725Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 10	NM_001354236.2:c.5035C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 10	NP_001341165.1:p.Pro1679T… NP_001341165.1:p.Pro1679Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 10	NM_001354236.2:c.5035C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 10	NP_001341165.1:p.Pro1679A… NP_001341165.1:p.Pro1679Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 10	NM_001354236.2:c.5035C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 10	NP_001341165.1:p.Pro1679S… NP_001341165.1:p.Pro1679Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 11	NM_001354237.2:c.5215C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 11	NP_001341166.1:p.Pro1739T… NP_001341166.1:p.Pro1739Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 11	NM_001354237.2:c.5215C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 11	NP_001341166.1:p.Pro1739A… NP_001341166.1:p.Pro1739Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 11	NM_001354237.2:c.5215C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 11	NP_001341166.1:p.Pro1739S… NP_001341166.1:p.Pro1739Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 14	NM_001354241.2:c.5182C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 14	NP_001341170.1:p.Pro1728T… NP_001341170.1:p.Pro1728Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 14	NM_001354241.2:c.5182C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 14	NP_001341170.1:p.Pro1728A… NP_001341170.1:p.Pro1728Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 14	NM_001354241.2:c.5182C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 14	NP_001341170.1:p.Pro1728S… NP_001341170.1:p.Pro1728Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 15	NM_001354242.2:c.5179C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 15	NP_001341171.1:p.Pro1727T… NP_001341171.1:p.Pro1727Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 15	NM_001354242.2:c.5179C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 15	NP_001341171.1:p.Pro1727A… NP_001341171.1:p.Pro1727Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 15	NM_001354242.2:c.5179C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 15	NP_001341171.1:p.Pro1727S… NP_001341171.1:p.Pro1727Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 17	NM_001354244.2:c.5071C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 17	NP_001341173.1:p.Pro1691T… NP_001341173.1:p.Pro1691Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 17	NM_001354244.2:c.5071C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 17	NP_001341173.1:p.Pro1691A… NP_001341173.1:p.Pro1691Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 17	NM_001354244.2:c.5071C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 17	NP_001341173.1:p.Pro1691S… NP_001341173.1:p.Pro1691Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 18	NM_001354245.2:c.4975C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 18	NP_001341174.1:p.Pro1659T… NP_001341174.1:p.Pro1659Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 18	NM_001354245.2:c.4975C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 18	NP_001341174.1:p.Pro1659A… NP_001341174.1:p.Pro1659Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 18	NM_001354245.2:c.4975C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 18	NP_001341174.1:p.Pro1659S… NP_001341174.1:p.Pro1659Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 22	NM_001354253.2:c.4912C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 22	NP_001341182.1:p.Pro1638T… NP_001341182.1:p.Pro1638Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 22	NM_001354253.2:c.4912C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 22	NP_001341182.1:p.Pro1638A… NP_001341182.1:p.Pro1638Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 22	NM_001354253.2:c.4912C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 22	NP_001341182.1:p.Pro1638S… NP_001341182.1:p.Pro1638Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 23	NM_001354254.2:c.5086C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 23	NP_001341183.1:p.Pro1696T… NP_001341183.1:p.Pro1696Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 23	NM_001354254.2:c.5086C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 23	NP_001341183.1:p.Pro1696A… NP_001341183.1:p.Pro1696Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 23	NM_001354254.2:c.5086C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 23	NP_001341183.1:p.Pro1696S… NP_001341183.1:p.Pro1696Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 24	NM_001354255.2:c.5074C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 24	NP_001341184.1:p.Pro1692T… NP_001341184.1:p.Pro1692Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 24	NM_001354255.2:c.5074C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 24	NP_001341184.1:p.Pro1692A… NP_001341184.1:p.Pro1692Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 24	NM_001354255.2:c.5074C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 24	NP_001341184.1:p.Pro1692S… NP_001341184.1:p.Pro1692Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 27	NM_001354258.2:c.5038C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 27	NP_001341187.1:p.Pro1680T… NP_001341187.1:p.Pro1680Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 27	NM_001354258.2:c.5038C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 27	NP_001341187.1:p.Pro1680A… NP_001341187.1:p.Pro1680Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 27	NM_001354258.2:c.5038C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 27	NP_001341187.1:p.Pro1680S… NP_001341187.1:p.Pro1680Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 32	NM_001354265.2:c.5134C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 32	NP_001341194.1:p.Pro1712T… NP_001341194.1:p.Pro1712Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 32	NM_001354265.2:c.5134C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 32	NP_001341194.1:p.Pro1712A… NP_001341194.1:p.Pro1712Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 32	NM_001354265.2:c.5134C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 32	NP_001341194.1:p.Pro1712S… NP_001341194.1:p.Pro1712Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 33	NM_001354266.2:c.4951C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 33	NP_001341195.1:p.Pro1651T… NP_001341195.1:p.Pro1651Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 33	NM_001354266.2:c.4951C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 33	NP_001341195.1:p.Pro1651A… NP_001341195.1:p.Pro1651Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 33	NM_001354266.2:c.4951C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 33	NP_001341195.1:p.Pro1651S… NP_001341195.1:p.Pro1651Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 34	NM_001354267.2:c.4951C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 33	NP_001341196.1:p.Pro1651T… NP_001341196.1:p.Pro1651Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 34	NM_001354267.2:c.4951C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 33	NP_001341196.1:p.Pro1651A… NP_001341196.1:p.Pro1651Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 34	NM_001354267.2:c.4951C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 33	NP_001341196.1:p.Pro1651S… NP_001341196.1:p.Pro1651Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 37	NM_001354270.2:c.4912C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 37	NP_001341199.1:p.Pro1638T… NP_001341199.1:p.Pro1638Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 37	NM_001354270.2:c.4912C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 37	NP_001341199.1:p.Pro1638A… NP_001341199.1:p.Pro1638Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 37	NM_001354270.2:c.4912C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 37	NP_001341199.1:p.Pro1638S… NP_001341199.1:p.Pro1638Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 38	NM_001354271.2:c.4852C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 38	NP_001341200.1:p.Pro1618T… NP_001341200.1:p.Pro1618Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 38	NM_001354271.2:c.4852C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 38	NP_001341200.1:p.Pro1618A… NP_001341200.1:p.Pro1618Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 38	NM_001354271.2:c.4852C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 38	NP_001341200.1:p.Pro1618S… NP_001341200.1:p.Pro1618Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 39	NM_001354272.2:c.5008C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 39	NP_001341201.1:p.Pro1670T… NP_001341201.1:p.Pro1670Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 39	NM_001354272.2:c.5008C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 39	NP_001341201.1:p.Pro1670A… NP_001341201.1:p.Pro1670Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 39	NM_001354272.2:c.5008C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 39	NP_001341201.1:p.Pro1670S… NP_001341201.1:p.Pro1670Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 40	NM_001354273.2:c.4837C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 40	NP_001341202.1:p.Pro1613T… NP_001341202.1:p.Pro1613Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 40	NM_001354273.2:c.4837C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 40	NP_001341202.1:p.Pro1613A… NP_001341202.1:p.Pro1613Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 40	NM_001354273.2:c.4837C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 40	NP_001341202.1:p.Pro1613S… NP_001341202.1:p.Pro1613Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 41	NM_001354274.2:c.4903C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 41	NP_001341203.1:p.Pro1635T… NP_001341203.1:p.Pro1635Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 41	NM_001354274.2:c.4903C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 41	NP_001341203.1:p.Pro1635A… NP_001341203.1:p.Pro1635Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 41	NM_001354274.2:c.4903C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 41	NP_001341203.1:p.Pro1635S… NP_001341203.1:p.Pro1635Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 46	NM_001354279.2:c.2701C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 46	NP_001341208.1:p.Pro901Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 46	NM_001354279.2:c.2701C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 46	NP_001341208.1:p.Pro901Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 46	NM_001354279.2:c.2701C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 46	NP_001341208.1:p.Pro901Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 48	NM_001354281.2:c.2665C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 48	NP_001341210.1:p.Pro889Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 48	NM_001354281.2:c.2665C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 48	NP_001341210.1:p.Pro889Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 48	NM_001354281.2:c.2665C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 48	NP_001341210.1:p.Pro889Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 31	NM_001354264.2:c.4972C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 31	NP_001341193.1:p.Pro1658T… NP_001341193.1:p.Pro1658Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 31	NM_001354264.2:c.4972C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 31	NP_001341193.1:p.Pro1658A… NP_001341193.1:p.Pro1658Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 31	NM_001354264.2:c.4972C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 31	NP_001341193.1:p.Pro1658S… NP_001341193.1:p.Pro1658Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 43	NM_001354276.2:c.4951C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 43	NP_001341205.1:p.Pro1651T… NP_001341205.1:p.Pro1651Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 43	NM_001354276.2:c.4951C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 43	NP_001341205.1:p.Pro1651A… NP_001341205.1:p.Pro1651Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 43	NM_001354276.2:c.4951C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 43	NP_001341205.1:p.Pro1651S… NP_001341205.1:p.Pro1651Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 44	NM_001354277.2:c.4753C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 44	NP_001341206.1:p.Pro1585T… NP_001341206.1:p.Pro1585Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 44	NM_001354277.2:c.4753C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 44	NP_001341206.1:p.Pro1585A… NP_001341206.1:p.Pro1585Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 44	NM_001354277.2:c.4753C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 44	NP_001341206.1:p.Pro1585S… NP_001341206.1:p.Pro1585Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 45	NM_001354278.2:c.2665C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 45	NP_001341207.1:p.Pro889Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 45	NM_001354278.2:c.2665C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 45	NP_001341207.1:p.Pro889Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 45	NM_001354278.2:c.2665C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 45	NP_001341207.1:p.Pro889Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 47	NM_001354280.2:c.2686C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 47	NP_001341209.1:p.Pro896Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 47	NM_001354280.2:c.2686C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 47	NP_001341209.1:p.Pro896Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 47	NM_001354280.2:c.2686C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 47	NP_001341209.1:p.Pro896Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 9	NM_001354235.2:c.5134C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 9	NP_001341164.1:p.Pro1712T… NP_001341164.1:p.Pro1712Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 9	NM_001354235.2:c.5134C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 9	NP_001341164.1:p.Pro1712A… NP_001341164.1:p.Pro1712Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 9	NM_001354235.2:c.5134C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 9	NP_001341164.1:p.Pro1712S… NP_001341164.1:p.Pro1712Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 36	NM_001354269.3:c.4924C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 36	NP_001341198.1:p.Pro1642T… NP_001341198.1:p.Pro1642Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 36	NM_001354269.3:c.4924C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 36	NP_001341198.1:p.Pro1642A… NP_001341198.1:p.Pro1642Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 36	NM_001354269.3:c.4924C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 36	NP_001341198.1:p.Pro1642S… NP_001341198.1:p.Pro1642Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 55	NM_001386148.2:c.5122C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 55	NP_001373077.1:p.Pro1708T… NP_001373077.1:p.Pro1708Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 55	NM_001386148.2:c.5122C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 55	NP_001373077.1:p.Pro1708A… NP_001373077.1:p.Pro1708Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 55	NM_001386148.2:c.5122C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 55	NP_001373077.1:p.Pro1708S… NP_001373077.1:p.Pro1708Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 72	NM_001386186.2:c.5122C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 69	NP_001373115.1:p.Pro1708T… NP_001373115.1:p.Pro1708Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 72	NM_001386186.2:c.5122C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 69	NP_001373115.1:p.Pro1708A… NP_001373115.1:p.Pro1708Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 72	NM_001386186.2:c.5122C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 69	NP_001373115.1:p.Pro1708S… NP_001373115.1:p.Pro1708Ser	P (Pro) > S (Ser)	Missense Variant
ANK2 transcript variant 73	NM_001386187.2:c.5002C>A	P [CCT] > T [ACT]	Coding Sequence Variant
ankyrin-2 isoform 70	NP_001373116.1:p.Pro1668T… NP_001373116.1:p.Pro1668Thr	P (Pro) > T (Thr)	Missense Variant
ANK2 transcript variant 73	NM_001386187.2:c.5002C>G	P [CCT] > A [GCT]	Coding Sequence Variant
ankyrin-2 isoform 70	NP_001373116.1:p.Pro1668A… NP_001373116.1:p.Pro1668Ala	P (Pro) > A (Ala)	Missense Variant
ANK2 transcript variant 73	NM_001386187.2:c.5002C>T	P [CCT] > S [TCT]	Coding Sequence Variant
ankyrin-2 isoform 70	NP_001373116.1:p.Pro1668S… NP_001373116.1:p.Pro1668Ser	P (Pro) > S (Ser)	Missense Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	C=	A	G	T
GRCh38.p14 chr 4	NC_000004.12:g.113369587=	NC_000004.12:g.113369587C>A	NC_000004.12:g.113369587C>G	NC_000004.12:g.113369587C>T
GRCh37.p13 chr 4	NC_000004.11:g.114290743=	NC_000004.11:g.114290743C>A	NC_000004.11:g.114290743C>G	NC_000004.11:g.114290743C>T
ANK2 RefSeqGene (LRG_327)	NG_009006.2:g.556505=	NG_009006.2:g.556505C>A	NG_009006.2:g.556505C>G	NG_009006.2:g.556505C>T
ANK2 transcript variant 1	NM_001148.6:c.11392=	NM_001148.6:c.11392C>A	NM_001148.6:c.11392C>G	NM_001148.6:c.11392C>T
ANK2 transcript variant 1	NM_001148.5:c.11392=	NM_001148.5:c.11392C>A	NM_001148.5:c.11392C>G	NM_001148.5:c.11392C>T
ANK2 transcript variant 1	NM_001148.4:c.11392=	NM_001148.4:c.11392C>A	NM_001148.4:c.11392C>G	NM_001148.4:c.11392C>T
ANK2 transcript variant 2	NM_020977.5:c.5137=	NM_020977.5:c.5137C>A	NM_020977.5:c.5137C>G	NM_020977.5:c.5137C>T
ANK2 transcript variant 2	NM_020977.4:c.5137=	NM_020977.4:c.5137C>A	NM_020977.4:c.5137C>G	NM_020977.4:c.5137C>T
ANK2 transcript variant 2	NM_020977.3:c.5137=	NM_020977.3:c.5137C>A	NM_020977.3:c.5137C>G	NM_020977.3:c.5137C>T
ANK2 transcript variant 3	NM_001127493.3:c.5110=	NM_001127493.3:c.5110C>A	NM_001127493.3:c.5110C>G	NM_001127493.3:c.5110C>T
ANK2 transcript variant 3	NM_001127493.2:c.5110=	NM_001127493.2:c.5110C>A	NM_001127493.2:c.5110C>G	NM_001127493.2:c.5110C>T
ANK2 transcript variant 3	NM_001127493.1:c.5110=	NM_001127493.1:c.5110C>A	NM_001127493.1:c.5110C>G	NM_001127493.1:c.5110C>T
ANK2 transcript variant 36	NM_001354269.3:c.4924=	NM_001354269.3:c.4924C>A	NM_001354269.3:c.4924C>G	NM_001354269.3:c.4924C>T
ANK2 transcript variant 36	NM_001354269.2:c.4924=	NM_001354269.2:c.4924C>A	NM_001354269.2:c.4924C>G	NM_001354269.2:c.4924C>T
ANK2 transcript variant 36	NM_001354269.1:c.4924=	NM_001354269.1:c.4924C>A	NM_001354269.1:c.4924C>G	NM_001354269.1:c.4924C>T
ANK2 transcript variant 4	NM_001354225.2:c.5149=	NM_001354225.2:c.5149C>A	NM_001354225.2:c.5149C>G	NM_001354225.2:c.5149C>T
ANK2 transcript variant 4	NM_001354225.1:c.5149=	NM_001354225.1:c.5149C>A	NM_001354225.1:c.5149C>G	NM_001354225.1:c.5149C>T
ANK2 transcript variant 5	NM_001354228.2:c.5038=	NM_001354228.2:c.5038C>A	NM_001354228.2:c.5038C>G	NM_001354228.2:c.5038C>T
ANK2 transcript variant 5	NM_001354228.1:c.5038=	NM_001354228.1:c.5038C>A	NM_001354228.1:c.5038C>G	NM_001354228.1:c.5038C>T
ANK2 transcript variant 8	NM_001354232.2:c.5173=	NM_001354232.2:c.5173C>A	NM_001354232.2:c.5173C>G	NM_001354232.2:c.5173C>T
ANK2 transcript variant 8	NM_001354232.1:c.5173=	NM_001354232.1:c.5173C>A	NM_001354232.1:c.5173C>G	NM_001354232.1:c.5173C>T
ANK2 transcript variant 6	NM_001354230.2:c.5116=	NM_001354230.2:c.5116C>A	NM_001354230.2:c.5116C>G	NM_001354230.2:c.5116C>T
ANK2 transcript variant 6	NM_001354230.1:c.5116=	NM_001354230.1:c.5116C>A	NM_001354230.1:c.5116C>G	NM_001354230.1:c.5116C>T
ANK2 transcript variant 7	NM_001354231.2:c.5179=	NM_001354231.2:c.5179C>A	NM_001354231.2:c.5179C>G	NM_001354231.2:c.5179C>T
ANK2 transcript variant 7	NM_001354231.1:c.5179=	NM_001354231.1:c.5179C>A	NM_001354231.1:c.5179C>G	NM_001354231.1:c.5179C>T
ANK2 transcript variant 9	NM_001354235.2:c.5134=	NM_001354235.2:c.5134C>A	NM_001354235.2:c.5134C>G	NM_001354235.2:c.5134C>T
ANK2 transcript variant 9	NM_001354235.1:c.5134=	NM_001354235.1:c.5134C>A	NM_001354235.1:c.5134C>G	NM_001354235.1:c.5134C>T
ANK2 transcript variant 10	NM_001354236.2:c.5035=	NM_001354236.2:c.5035C>A	NM_001354236.2:c.5035C>G	NM_001354236.2:c.5035C>T
ANK2 transcript variant 10	NM_001354236.1:c.5035=	NM_001354236.1:c.5035C>A	NM_001354236.1:c.5035C>G	NM_001354236.1:c.5035C>T
ANK2 transcript variant 14	NM_001354241.2:c.5182=	NM_001354241.2:c.5182C>A	NM_001354241.2:c.5182C>G	NM_001354241.2:c.5182C>T
ANK2 transcript variant 14	NM_001354241.1:c.5182=	NM_001354241.1:c.5182C>A	NM_001354241.1:c.5182C>G	NM_001354241.1:c.5182C>T
ANK2 transcript variant 11	NM_001354237.2:c.5215=	NM_001354237.2:c.5215C>A	NM_001354237.2:c.5215C>G	NM_001354237.2:c.5215C>T
ANK2 transcript variant 11	NM_001354237.1:c.5215=	NM_001354237.1:c.5215C>A	NM_001354237.1:c.5215C>G	NM_001354237.1:c.5215C>T
ANK2 transcript variant 18	NM_001354245.2:c.4975=	NM_001354245.2:c.4975C>A	NM_001354245.2:c.4975C>G	NM_001354245.2:c.4975C>T
ANK2 transcript variant 18	NM_001354245.1:c.4975=	NM_001354245.1:c.4975C>A	NM_001354245.1:c.4975C>G	NM_001354245.1:c.4975C>T
ANK2 transcript variant 13	NM_001354240.2:c.5182=	NM_001354240.2:c.5182C>A	NM_001354240.2:c.5182C>G	NM_001354240.2:c.5182C>T
ANK2 transcript variant 13	NM_001354240.1:c.5182=	NM_001354240.1:c.5182C>A	NM_001354240.1:c.5182C>G	NM_001354240.1:c.5182C>T
ANK2 transcript variant 15	NM_001354242.2:c.5179=	NM_001354242.2:c.5179C>A	NM_001354242.2:c.5179C>G	NM_001354242.2:c.5179C>T
ANK2 transcript variant 15	NM_001354242.1:c.5179=	NM_001354242.1:c.5179C>A	NM_001354242.1:c.5179C>G	NM_001354242.1:c.5179C>T
ANK2 transcript variant 19	NM_001354246.2:c.5134=	NM_001354246.2:c.5134C>A	NM_001354246.2:c.5134C>G	NM_001354246.2:c.5134C>T
ANK2 transcript variant 19	NM_001354246.1:c.5134=	NM_001354246.1:c.5134C>A	NM_001354246.1:c.5134C>G	NM_001354246.1:c.5134C>T
ANK2 transcript variant 12	NM_001354239.2:c.5107=	NM_001354239.2:c.5107C>A	NM_001354239.2:c.5107C>G	NM_001354239.2:c.5107C>T
ANK2 transcript variant 12	NM_001354239.1:c.5107=	NM_001354239.1:c.5107C>A	NM_001354239.1:c.5107C>G	NM_001354239.1:c.5107C>T
ANK2 transcript variant 16	NM_001354243.2:c.5074=	NM_001354243.2:c.5074C>A	NM_001354243.2:c.5074C>G	NM_001354243.2:c.5074C>T
ANK2 transcript variant 16	NM_001354243.1:c.5074=	NM_001354243.1:c.5074C>A	NM_001354243.1:c.5074C>G	NM_001354243.1:c.5074C>T
ANK2 transcript variant 17	NM_001354244.2:c.5071=	NM_001354244.2:c.5071C>A	NM_001354244.2:c.5071C>G	NM_001354244.2:c.5071C>T
ANK2 transcript variant 17	NM_001354244.1:c.5071=	NM_001354244.1:c.5071C>A	NM_001354244.1:c.5071C>G	NM_001354244.1:c.5071C>T
ANK2 transcript variant 27	NM_001354258.2:c.5038=	NM_001354258.2:c.5038C>A	NM_001354258.2:c.5038C>G	NM_001354258.2:c.5038C>T
ANK2 transcript variant 27	NM_001354258.1:c.5038=	NM_001354258.1:c.5038C>A	NM_001354258.1:c.5038C>G	NM_001354258.1:c.5038C>T
ANK2 transcript variant 20	NM_001354249.2:c.4951=	NM_001354249.2:c.4951C>A	NM_001354249.2:c.4951C>G	NM_001354249.2:c.4951C>T
ANK2 transcript variant 20	NM_001354249.1:c.4951=	NM_001354249.1:c.4951C>A	NM_001354249.1:c.4951C>G	NM_001354249.1:c.4951C>T
ANK2 transcript variant 21	NM_001354252.2:c.5107=	NM_001354252.2:c.5107C>A	NM_001354252.2:c.5107C>G	NM_001354252.2:c.5107C>T
ANK2 transcript variant 21	NM_001354252.1:c.5107=	NM_001354252.1:c.5107C>A	NM_001354252.1:c.5107C>G	NM_001354252.1:c.5107C>T
ANK2 transcript variant 22	NM_001354253.2:c.4912=	NM_001354253.2:c.4912C>A	NM_001354253.2:c.4912C>G	NM_001354253.2:c.4912C>T
ANK2 transcript variant 22	NM_001354253.1:c.4912=	NM_001354253.1:c.4912C>A	NM_001354253.1:c.4912C>G	NM_001354253.1:c.4912C>T
ANK2 transcript variant 23	NM_001354254.2:c.5086=	NM_001354254.2:c.5086C>A	NM_001354254.2:c.5086C>G	NM_001354254.2:c.5086C>T
ANK2 transcript variant 23	NM_001354254.1:c.5086=	NM_001354254.1:c.5086C>A	NM_001354254.1:c.5086C>G	NM_001354254.1:c.5086C>T
ANK2 transcript variant 32	NM_001354265.2:c.5134=	NM_001354265.2:c.5134C>A	NM_001354265.2:c.5134C>G	NM_001354265.2:c.5134C>T
ANK2 transcript variant 32	NM_001354265.1:c.5134=	NM_001354265.1:c.5134C>A	NM_001354265.1:c.5134C>G	NM_001354265.1:c.5134C>T
ANK2 transcript variant 24	NM_001354255.2:c.5074=	NM_001354255.2:c.5074C>A	NM_001354255.2:c.5074C>G	NM_001354255.2:c.5074C>T
ANK2 transcript variant 24	NM_001354255.1:c.5074=	NM_001354255.1:c.5074C>A	NM_001354255.1:c.5074C>G	NM_001354255.1:c.5074C>T
ANK2 transcript variant 25	NM_001354256.2:c.5071=	NM_001354256.2:c.5071C>A	NM_001354256.2:c.5071C>G	NM_001354256.2:c.5071C>T
ANK2 transcript variant 25	NM_001354256.1:c.5071=	NM_001354256.1:c.5071C>A	NM_001354256.1:c.5071C>G	NM_001354256.1:c.5071C>T
ANK2 transcript variant 26	NM_001354257.2:c.4876=	NM_001354257.2:c.4876C>A	NM_001354257.2:c.4876C>G	NM_001354257.2:c.4876C>T
ANK2 transcript variant 26	NM_001354257.1:c.4876=	NM_001354257.1:c.4876C>A	NM_001354257.1:c.4876C>G	NM_001354257.1:c.4876C>T
ANK2 transcript variant 35	NM_001354268.2:c.4939=	NM_001354268.2:c.4939C>A	NM_001354268.2:c.4939C>G	NM_001354268.2:c.4939C>T
ANK2 transcript variant 35	NM_001354268.1:c.4939=	NM_001354268.1:c.4939C>A	NM_001354268.1:c.4939C>G	NM_001354268.1:c.4939C>T
ANK2 transcript variant 72	NM_001386186.2:c.5122=	NM_001386186.2:c.5122C>A	NM_001386186.2:c.5122C>G	NM_001386186.2:c.5122C>T
ANK2 transcript variant 73	NM_001386186.1:c.5122=	NM_001386186.1:c.5122C>A	NM_001386186.1:c.5122C>G	NM_001386186.1:c.5122C>T
ANK2 transcript variant 28	NM_001354260.2:c.4852=	NM_001354260.2:c.4852C>A	NM_001354260.2:c.4852C>G	NM_001354260.2:c.4852C>T
ANK2 transcript variant 28	NM_001354260.1:c.4852=	NM_001354260.1:c.4852C>A	NM_001354260.1:c.4852C>G	NM_001354260.1:c.4852C>T
ANK2 transcript variant 29	NM_001354261.2:c.4996=	NM_001354261.2:c.4996C>A	NM_001354261.2:c.4996C>G	NM_001354261.2:c.4996C>T
ANK2 transcript variant 29	NM_001354261.1:c.4996=	NM_001354261.1:c.4996C>A	NM_001354261.1:c.4996C>G	NM_001354261.1:c.4996C>T
ANK2 transcript variant 30	NM_001354262.2:c.4975=	NM_001354262.2:c.4975C>A	NM_001354262.2:c.4975C>G	NM_001354262.2:c.4975C>T
ANK2 transcript variant 30	NM_001354262.1:c.4975=	NM_001354262.1:c.4975C>A	NM_001354262.1:c.4975C>G	NM_001354262.1:c.4975C>T
ANK2 transcript variant 31	NM_001354264.2:c.4972=	NM_001354264.2:c.4972C>A	NM_001354264.2:c.4972C>G	NM_001354264.2:c.4972C>T
ANK2 transcript variant 31	NM_001354264.1:c.4972=	NM_001354264.1:c.4972C>A	NM_001354264.1:c.4972C>G	NM_001354264.1:c.4972C>T
ANK2 transcript variant 40	NM_001354273.2:c.4837=	NM_001354273.2:c.4837C>A	NM_001354273.2:c.4837C>G	NM_001354273.2:c.4837C>T
ANK2 transcript variant 40	NM_001354273.1:c.4837=	NM_001354273.1:c.4837C>A	NM_001354273.1:c.4837C>G	NM_001354273.1:c.4837C>T
ANK2 transcript variant 33	NM_001354266.2:c.4951=	NM_001354266.2:c.4951C>A	NM_001354266.2:c.4951C>G	NM_001354266.2:c.4951C>T
ANK2 transcript variant 33	NM_001354266.1:c.4951=	NM_001354266.1:c.4951C>A	NM_001354266.1:c.4951C>G	NM_001354266.1:c.4951C>T
ANK2 transcript variant 34	NM_001354267.2:c.4951=	NM_001354267.2:c.4951C>A	NM_001354267.2:c.4951C>G	NM_001354267.2:c.4951C>T
ANK2 transcript variant 34	NM_001354267.1:c.4951=	NM_001354267.1:c.4951C>A	NM_001354267.1:c.4951C>G	NM_001354267.1:c.4951C>T
ANK2 transcript variant 37	NM_001354270.2:c.4912=	NM_001354270.2:c.4912C>A	NM_001354270.2:c.4912C>G	NM_001354270.2:c.4912C>T
ANK2 transcript variant 37	NM_001354270.1:c.4912=	NM_001354270.1:c.4912C>A	NM_001354270.1:c.4912C>G	NM_001354270.1:c.4912C>T
ANK2 transcript variant 55	NM_001386148.2:c.5122=	NM_001386148.2:c.5122C>A	NM_001386148.2:c.5122C>G	NM_001386148.2:c.5122C>T
ANK2 transcript variant 55	NM_001386148.1:c.5122=	NM_001386148.1:c.5122C>A	NM_001386148.1:c.5122C>G	NM_001386148.1:c.5122C>T
ANK2 transcript variant 39	NM_001354272.2:c.5008=	NM_001354272.2:c.5008C>A	NM_001354272.2:c.5008C>G	NM_001354272.2:c.5008C>T
ANK2 transcript variant 39	NM_001354272.1:c.5008=	NM_001354272.1:c.5008C>A	NM_001354272.1:c.5008C>G	NM_001354272.1:c.5008C>T
ANK2 transcript variant 38	NM_001354271.2:c.4852=	NM_001354271.2:c.4852C>A	NM_001354271.2:c.4852C>G	NM_001354271.2:c.4852C>T
ANK2 transcript variant 38	NM_001354271.1:c.4852=	NM_001354271.1:c.4852C>A	NM_001354271.1:c.4852C>G	NM_001354271.1:c.4852C>T
ANK2 transcript variant 41	NM_001354274.2:c.4903=	NM_001354274.2:c.4903C>A	NM_001354274.2:c.4903C>G	NM_001354274.2:c.4903C>T
ANK2 transcript variant 41	NM_001354274.1:c.4903=	NM_001354274.1:c.4903C>A	NM_001354274.1:c.4903C>G	NM_001354274.1:c.4903C>T
ANK2 transcript variant 42	NM_001354275.2:c.4975=	NM_001354275.2:c.4975C>A	NM_001354275.2:c.4975C>G	NM_001354275.2:c.4975C>T
ANK2 transcript variant 42	NM_001354275.1:c.4975=	NM_001354275.1:c.4975C>A	NM_001354275.1:c.4975C>G	NM_001354275.1:c.4975C>T
ANK2 transcript variant 43	NM_001354276.2:c.4951=	NM_001354276.2:c.4951C>A	NM_001354276.2:c.4951C>G	NM_001354276.2:c.4951C>T
ANK2 transcript variant 43	NM_001354276.1:c.4951=	NM_001354276.1:c.4951C>A	NM_001354276.1:c.4951C>G	NM_001354276.1:c.4951C>T
ANK2 transcript variant 73	NM_001386187.2:c.5002=	NM_001386187.2:c.5002C>A	NM_001386187.2:c.5002C>G	NM_001386187.2:c.5002C>T
ANK2 transcript variant 74	NM_001386187.1:c.5002=	NM_001386187.1:c.5002C>A	NM_001386187.1:c.5002C>G	NM_001386187.1:c.5002C>T
ANK2 transcript variant 44	NM_001354277.2:c.4753=	NM_001354277.2:c.4753C>A	NM_001354277.2:c.4753C>G	NM_001354277.2:c.4753C>T
ANK2 transcript variant 44	NM_001354277.1:c.4753=	NM_001354277.1:c.4753C>A	NM_001354277.1:c.4753C>G	NM_001354277.1:c.4753C>T
ANK2 transcript variant 45	NM_001354278.2:c.2665=	NM_001354278.2:c.2665C>A	NM_001354278.2:c.2665C>G	NM_001354278.2:c.2665C>T
ANK2 transcript variant 45	NM_001354278.1:c.2665=	NM_001354278.1:c.2665C>A	NM_001354278.1:c.2665C>G	NM_001354278.1:c.2665C>T
ANK2 transcript variant 46	NM_001354279.2:c.2701=	NM_001354279.2:c.2701C>A	NM_001354279.2:c.2701C>G	NM_001354279.2:c.2701C>T
ANK2 transcript variant 46	NM_001354279.1:c.2701=	NM_001354279.1:c.2701C>A	NM_001354279.1:c.2701C>G	NM_001354279.1:c.2701C>T
ANK2 transcript variant 47	NM_001354280.2:c.2686=	NM_001354280.2:c.2686C>A	NM_001354280.2:c.2686C>G	NM_001354280.2:c.2686C>T
ANK2 transcript variant 47	NM_001354280.1:c.2686=	NM_001354280.1:c.2686C>A	NM_001354280.1:c.2686C>G	NM_001354280.1:c.2686C>T
ANK2 transcript variant 48	NM_001354281.2:c.2665=	NM_001354281.2:c.2665C>A	NM_001354281.2:c.2665C>G	NM_001354281.2:c.2665C>T
ANK2 transcript variant 48	NM_001354281.1:c.2665=	NM_001354281.1:c.2665C>A	NM_001354281.1:c.2665C>G	NM_001354281.1:c.2665C>T
ANK2 transcript variant 49	NM_001354282.2:c.2701=	NM_001354282.2:c.2701C>A	NM_001354282.2:c.2701C>G	NM_001354282.2:c.2701C>T
ANK2 transcript variant 49	NM_001354282.1:c.2701=	NM_001354282.1:c.2701C>A	NM_001354282.1:c.2701C>G	NM_001354282.1:c.2701C>T
ANK2 transcript variant 70	NM_001386174.1:c.11533=	NM_001386174.1:c.11533C>A	NM_001386174.1:c.11533C>G	NM_001386174.1:c.11533C>T
ANK2 transcript variant 71	NM_001386175.1:c.11509=	NM_001386175.1:c.11509C>A	NM_001386175.1:c.11509C>G	NM_001386175.1:c.11509C>T
ANK2 transcript variant 50	NM_001386142.1:c.11158=	NM_001386142.1:c.11158C>A	NM_001386142.1:c.11158C>G	NM_001386142.1:c.11158C>T
ANK2 transcript variant 65	NM_001386166.1:c.7792=	NM_001386166.1:c.7792C>A	NM_001386166.1:c.7792C>G	NM_001386166.1:c.7792C>T
ANK2 transcript variant 52	NM_001386144.1:c.5182=	NM_001386144.1:c.5182C>A	NM_001386144.1:c.5182C>G	NM_001386144.1:c.5182C>T
ANK2 transcript variant 51	NM_001386143.1:c.5074=	NM_001386143.1:c.5074C>A	NM_001386143.1:c.5074C>G	NM_001386143.1:c.5074C>T
ANK2 transcript variant 53	NM_001386146.1:c.4918=	NM_001386146.1:c.4918C>A	NM_001386146.1:c.4918C>G	NM_001386146.1:c.4918C>T
ANK2 transcript variant 67	NM_001386160.1:c.4981=	NM_001386160.1:c.4981C>A	NM_001386160.1:c.4981C>G	NM_001386160.1:c.4981C>T
ANK2 transcript variant 54	NM_001386147.1:c.4963=	NM_001386147.1:c.4963C>A	NM_001386147.1:c.4963C>G	NM_001386147.1:c.4963C>T
ANK2 transcript variant 56	NM_001386149.1:c.4918=	NM_001386149.1:c.4918C>A	NM_001386149.1:c.4918C>G	NM_001386149.1:c.4918C>T
ANK2 transcript variant 59	NM_001386152.1:c.5194=	NM_001386152.1:c.5194C>A	NM_001386152.1:c.5194C>G	NM_001386152.1:c.5194C>T
ANK2 transcript variant 57	NM_001386150.1:c.4918=	NM_001386150.1:c.4918C>A	NM_001386150.1:c.4918C>G	NM_001386150.1:c.4918C>T
ANK2 transcript variant 68	NM_001386161.1:c.5071=	NM_001386161.1:c.5071C>A	NM_001386161.1:c.5071C>G	NM_001386161.1:c.5071C>T
ANK2 transcript variant 58	NM_001386151.1:c.4852=	NM_001386151.1:c.4852C>A	NM_001386151.1:c.4852C>G	NM_001386151.1:c.4852C>T
ANK2 transcript variant 60	NM_001386153.1:c.4918=	NM_001386153.1:c.4918C>A	NM_001386153.1:c.4918C>G	NM_001386153.1:c.4918C>T
ANK2 transcript variant 61	NM_001386154.1:c.4903=	NM_001386154.1:c.4903C>A	NM_001386154.1:c.4903C>G	NM_001386154.1:c.4903C>T
ANK2 transcript variant 62	NM_001386156.1:c.4876=	NM_001386156.1:c.4876C>A	NM_001386156.1:c.4876C>G	NM_001386156.1:c.4876C>T
ANK2 transcript variant 69	NM_001386162.1:c.4951=	NM_001386162.1:c.4951C>A	NM_001386162.1:c.4951C>G	NM_001386162.1:c.4951C>T
ANK2 transcript variant 63	NM_001386157.1:c.4753=	NM_001386157.1:c.4753C>A	NM_001386157.1:c.4753C>G	NM_001386157.1:c.4753C>T
ANK2 transcript variant 64	NM_001386158.1:c.4654=	NM_001386158.1:c.4654C>A	NM_001386158.1:c.4654C>G	NM_001386158.1:c.4654C>T
ANK2 transcript variant 66	NM_001386167.1:c.1537=	NM_001386167.1:c.1537C>A	NM_001386167.1:c.1537C>G	NM_001386167.1:c.1537C>T
ANK2 transcript variant 72	NM_001386173.1:c.11431=	NM_001386173.1:c.11431C>A	NM_001386173.1:c.11431C>G	NM_001386173.1:c.11431C>T
ankyrin-2 isoform 1	NP_001139.3:p.Pro3798=	NP_001139.3:p.Pro3798Thr	NP_001139.3:p.Pro3798Ala	NP_001139.3:p.Pro3798Ser
ankyrin-2 isoform 2	NP_066187.2:p.Pro1713=	NP_066187.2:p.Pro1713Thr	NP_066187.2:p.Pro1713Ala	NP_066187.2:p.Pro1713Ser
ankyrin-2 isoform 3	NP_001120965.1:p.Pro1704=	NP_001120965.1:p.Pro1704Thr	NP_001120965.1:p.Pro1704Ala	NP_001120965.1:p.Pro1704Ser
ankyrin-2 isoform 36	NP_001341198.1:p.Pro1642=	NP_001341198.1:p.Pro1642Thr	NP_001341198.1:p.Pro1642Ala	NP_001341198.1:p.Pro1642Ser
ankyrin-2 isoform 4	NP_001341154.1:p.Pro1717=	NP_001341154.1:p.Pro1717Thr	NP_001341154.1:p.Pro1717Ala	NP_001341154.1:p.Pro1717Ser
ankyrin-2 isoform 5	NP_001341157.1:p.Pro1680=	NP_001341157.1:p.Pro1680Thr	NP_001341157.1:p.Pro1680Ala	NP_001341157.1:p.Pro1680Ser
ankyrin-2 isoform 8	NP_001341161.1:p.Pro1725=	NP_001341161.1:p.Pro1725Thr	NP_001341161.1:p.Pro1725Ala	NP_001341161.1:p.Pro1725Ser
ankyrin-2 isoform 6	NP_001341159.1:p.Pro1706=	NP_001341159.1:p.Pro1706Thr	NP_001341159.1:p.Pro1706Ala	NP_001341159.1:p.Pro1706Ser
ankyrin-2 isoform 7	NP_001341160.1:p.Pro1727=	NP_001341160.1:p.Pro1727Thr	NP_001341160.1:p.Pro1727Ala	NP_001341160.1:p.Pro1727Ser
ankyrin-2 isoform 9	NP_001341164.1:p.Pro1712=	NP_001341164.1:p.Pro1712Thr	NP_001341164.1:p.Pro1712Ala	NP_001341164.1:p.Pro1712Ser
ankyrin-2 isoform 10	NP_001341165.1:p.Pro1679=	NP_001341165.1:p.Pro1679Thr	NP_001341165.1:p.Pro1679Ala	NP_001341165.1:p.Pro1679Ser
ankyrin-2 isoform 14	NP_001341170.1:p.Pro1728=	NP_001341170.1:p.Pro1728Thr	NP_001341170.1:p.Pro1728Ala	NP_001341170.1:p.Pro1728Ser
ankyrin-2 isoform 11	NP_001341166.1:p.Pro1739=	NP_001341166.1:p.Pro1739Thr	NP_001341166.1:p.Pro1739Ala	NP_001341166.1:p.Pro1739Ser
ankyrin-2 isoform 18	NP_001341174.1:p.Pro1659=	NP_001341174.1:p.Pro1659Thr	NP_001341174.1:p.Pro1659Ala	NP_001341174.1:p.Pro1659Ser
ankyrin-2 isoform 13	NP_001341169.1:p.Pro1728=	NP_001341169.1:p.Pro1728Thr	NP_001341169.1:p.Pro1728Ala	NP_001341169.1:p.Pro1728Ser
ankyrin-2 isoform 15	NP_001341171.1:p.Pro1727=	NP_001341171.1:p.Pro1727Thr	NP_001341171.1:p.Pro1727Ala	NP_001341171.1:p.Pro1727Ser
ankyrin-2 isoform 19	NP_001341175.1:p.Pro1712=	NP_001341175.1:p.Pro1712Thr	NP_001341175.1:p.Pro1712Ala	NP_001341175.1:p.Pro1712Ser
ankyrin-2 isoform 12	NP_001341168.1:p.Pro1703=	NP_001341168.1:p.Pro1703Thr	NP_001341168.1:p.Pro1703Ala	NP_001341168.1:p.Pro1703Ser
ankyrin-2 isoform 16	NP_001341172.1:p.Pro1692=	NP_001341172.1:p.Pro1692Thr	NP_001341172.1:p.Pro1692Ala	NP_001341172.1:p.Pro1692Ser
ankyrin-2 isoform 17	NP_001341173.1:p.Pro1691=	NP_001341173.1:p.Pro1691Thr	NP_001341173.1:p.Pro1691Ala	NP_001341173.1:p.Pro1691Ser
ankyrin-2 isoform 27	NP_001341187.1:p.Pro1680=	NP_001341187.1:p.Pro1680Thr	NP_001341187.1:p.Pro1680Ala	NP_001341187.1:p.Pro1680Ser
ankyrin-2 isoform 20	NP_001341178.1:p.Pro1651=	NP_001341178.1:p.Pro1651Thr	NP_001341178.1:p.Pro1651Ala	NP_001341178.1:p.Pro1651Ser
ankyrin-2 isoform 21	NP_001341181.1:p.Pro1703=	NP_001341181.1:p.Pro1703Thr	NP_001341181.1:p.Pro1703Ala	NP_001341181.1:p.Pro1703Ser
ankyrin-2 isoform 22	NP_001341182.1:p.Pro1638=	NP_001341182.1:p.Pro1638Thr	NP_001341182.1:p.Pro1638Ala	NP_001341182.1:p.Pro1638Ser
ankyrin-2 isoform 23	NP_001341183.1:p.Pro1696=	NP_001341183.1:p.Pro1696Thr	NP_001341183.1:p.Pro1696Ala	NP_001341183.1:p.Pro1696Ser
ankyrin-2 isoform 32	NP_001341194.1:p.Pro1712=	NP_001341194.1:p.Pro1712Thr	NP_001341194.1:p.Pro1712Ala	NP_001341194.1:p.Pro1712Ser
ankyrin-2 isoform 24	NP_001341184.1:p.Pro1692=	NP_001341184.1:p.Pro1692Thr	NP_001341184.1:p.Pro1692Ala	NP_001341184.1:p.Pro1692Ser
ankyrin-2 isoform 25	NP_001341185.1:p.Pro1691=	NP_001341185.1:p.Pro1691Thr	NP_001341185.1:p.Pro1691Ala	NP_001341185.1:p.Pro1691Ser
ankyrin-2 isoform 26	NP_001341186.1:p.Pro1626=	NP_001341186.1:p.Pro1626Thr	NP_001341186.1:p.Pro1626Ala	NP_001341186.1:p.Pro1626Ser
ankyrin-2 isoform 35	NP_001341197.1:p.Pro1647=	NP_001341197.1:p.Pro1647Thr	NP_001341197.1:p.Pro1647Ala	NP_001341197.1:p.Pro1647Ser
ankyrin-2 isoform 69	NP_001373115.1:p.Pro1708=	NP_001373115.1:p.Pro1708Thr	NP_001373115.1:p.Pro1708Ala	NP_001373115.1:p.Pro1708Ser
ankyrin-2 isoform 28	NP_001341189.1:p.Pro1618=	NP_001341189.1:p.Pro1618Thr	NP_001341189.1:p.Pro1618Ala	NP_001341189.1:p.Pro1618Ser
ankyrin-2 isoform 29	NP_001341190.1:p.Pro1666=	NP_001341190.1:p.Pro1666Thr	NP_001341190.1:p.Pro1666Ala	NP_001341190.1:p.Pro1666Ser
ankyrin-2 isoform 30	NP_001341191.1:p.Pro1659=	NP_001341191.1:p.Pro1659Thr	NP_001341191.1:p.Pro1659Ala	NP_001341191.1:p.Pro1659Ser
ankyrin-2 isoform 31	NP_001341193.1:p.Pro1658=	NP_001341193.1:p.Pro1658Thr	NP_001341193.1:p.Pro1658Ala	NP_001341193.1:p.Pro1658Ser
ankyrin-2 isoform 40	NP_001341202.1:p.Pro1613=	NP_001341202.1:p.Pro1613Thr	NP_001341202.1:p.Pro1613Ala	NP_001341202.1:p.Pro1613Ser
ankyrin-2 isoform 33	NP_001341195.1:p.Pro1651=	NP_001341195.1:p.Pro1651Thr	NP_001341195.1:p.Pro1651Ala	NP_001341195.1:p.Pro1651Ser
ankyrin-2 isoform 33	NP_001341196.1:p.Pro1651=	NP_001341196.1:p.Pro1651Thr	NP_001341196.1:p.Pro1651Ala	NP_001341196.1:p.Pro1651Ser
ankyrin-2 isoform 37	NP_001341199.1:p.Pro1638=	NP_001341199.1:p.Pro1638Thr	NP_001341199.1:p.Pro1638Ala	NP_001341199.1:p.Pro1638Ser
ankyrin-2 isoform 55	NP_001373077.1:p.Pro1708=	NP_001373077.1:p.Pro1708Thr	NP_001373077.1:p.Pro1708Ala	NP_001373077.1:p.Pro1708Ser
ankyrin-2 isoform 39	NP_001341201.1:p.Pro1670=	NP_001341201.1:p.Pro1670Thr	NP_001341201.1:p.Pro1670Ala	NP_001341201.1:p.Pro1670Ser
ankyrin-2 isoform 38	NP_001341200.1:p.Pro1618=	NP_001341200.1:p.Pro1618Thr	NP_001341200.1:p.Pro1618Ala	NP_001341200.1:p.Pro1618Ser
ankyrin-2 isoform 41	NP_001341203.1:p.Pro1635=	NP_001341203.1:p.Pro1635Thr	NP_001341203.1:p.Pro1635Ala	NP_001341203.1:p.Pro1635Ser
ankyrin-2 isoform 42	NP_001341204.1:p.Pro1659=	NP_001341204.1:p.Pro1659Thr	NP_001341204.1:p.Pro1659Ala	NP_001341204.1:p.Pro1659Ser
ankyrin-2 isoform 43	NP_001341205.1:p.Pro1651=	NP_001341205.1:p.Pro1651Thr	NP_001341205.1:p.Pro1651Ala	NP_001341205.1:p.Pro1651Ser
ankyrin-2 isoform 70	NP_001373116.1:p.Pro1668=	NP_001373116.1:p.Pro1668Thr	NP_001373116.1:p.Pro1668Ala	NP_001373116.1:p.Pro1668Ser
ankyrin-2 isoform 44	NP_001341206.1:p.Pro1585=	NP_001341206.1:p.Pro1585Thr	NP_001341206.1:p.Pro1585Ala	NP_001341206.1:p.Pro1585Ser
ankyrin-2 isoform 45	NP_001341207.1:p.Pro889=	NP_001341207.1:p.Pro889Thr	NP_001341207.1:p.Pro889Ala	NP_001341207.1:p.Pro889Ser
ankyrin-2 isoform 46	NP_001341208.1:p.Pro901=	NP_001341208.1:p.Pro901Thr	NP_001341208.1:p.Pro901Ala	NP_001341208.1:p.Pro901Ser
ankyrin-2 isoform 47	NP_001341209.1:p.Pro896=	NP_001341209.1:p.Pro896Thr	NP_001341209.1:p.Pro896Ala	NP_001341209.1:p.Pro896Ser
ankyrin-2 isoform 48	NP_001341210.1:p.Pro889=	NP_001341210.1:p.Pro889Thr	NP_001341210.1:p.Pro889Ala	NP_001341210.1:p.Pro889Ser
ankyrin-2 isoform 49	NP_001341211.1:p.Pro901=	NP_001341211.1:p.Pro901Thr	NP_001341211.1:p.Pro901Ala	NP_001341211.1:p.Pro901Ser
ankyrin-2 isoform 67	NP_001373103.1:p.Pro3845=	NP_001373103.1:p.Pro3845Thr	NP_001373103.1:p.Pro3845Ala	NP_001373103.1:p.Pro3845Ser
ankyrin-2 isoform 68	NP_001373104.1:p.Pro3837=	NP_001373104.1:p.Pro3837Thr	NP_001373104.1:p.Pro3837Ala	NP_001373104.1:p.Pro3837Ser
ankyrin-2 isoform 50	NP_001373071.1:p.Pro3720=	NP_001373071.1:p.Pro3720Thr	NP_001373071.1:p.Pro3720Ala	NP_001373071.1:p.Pro3720Ser
ankyrin-2 isoform 65	NP_001373095.1:p.Pro2598=	NP_001373095.1:p.Pro2598Thr	NP_001373095.1:p.Pro2598Ala	NP_001373095.1:p.Pro2598Ser
ankyrin-2 isoform 52	NP_001373073.1:p.Pro1728=	NP_001373073.1:p.Pro1728Thr	NP_001373073.1:p.Pro1728Ala	NP_001373073.1:p.Pro1728Ser
ankyrin-2 isoform 51	NP_001373072.1:p.Pro1692=	NP_001373072.1:p.Pro1692Thr	NP_001373072.1:p.Pro1692Ala	NP_001373072.1:p.Pro1692Ser
ankyrin-2 isoform 53	NP_001373075.1:p.Pro1640=	NP_001373075.1:p.Pro1640Thr	NP_001373075.1:p.Pro1640Ala	NP_001373075.1:p.Pro1640Ser
ankyrin-2 isoform 71	NP_001373089.1:p.Pro1661=	NP_001373089.1:p.Pro1661Thr	NP_001373089.1:p.Pro1661Ala	NP_001373089.1:p.Pro1661Ser
ankyrin-2 isoform 54	NP_001373076.1:p.Pro1655=	NP_001373076.1:p.Pro1655Thr	NP_001373076.1:p.Pro1655Ala	NP_001373076.1:p.Pro1655Ser
ankyrin-2 isoform 56	NP_001373078.1:p.Pro1640=	NP_001373078.1:p.Pro1640Thr	NP_001373078.1:p.Pro1640Ala	NP_001373078.1:p.Pro1640Ser
ankyrin-2 isoform 59	NP_001373081.1:p.Pro1732=	NP_001373081.1:p.Pro1732Thr	NP_001373081.1:p.Pro1732Ala	NP_001373081.1:p.Pro1732Ser
ankyrin-2 isoform 57	NP_001373079.1:p.Pro1640=	NP_001373079.1:p.Pro1640Thr	NP_001373079.1:p.Pro1640Ala	NP_001373079.1:p.Pro1640Ser
ankyrin-2 isoform 25	NP_001373090.1:p.Pro1691=	NP_001373090.1:p.Pro1691Thr	NP_001373090.1:p.Pro1691Ala	NP_001373090.1:p.Pro1691Ser
ankyrin-2 isoform 58	NP_001373080.1:p.Pro1618=	NP_001373080.1:p.Pro1618Thr	NP_001373080.1:p.Pro1618Ala	NP_001373080.1:p.Pro1618Ser
ankyrin-2 isoform 60	NP_001373082.1:p.Pro1640=	NP_001373082.1:p.Pro1640Thr	NP_001373082.1:p.Pro1640Ala	NP_001373082.1:p.Pro1640Ser
ankyrin-2 isoform 61	NP_001373083.1:p.Pro1635=	NP_001373083.1:p.Pro1635Thr	NP_001373083.1:p.Pro1635Ala	NP_001373083.1:p.Pro1635Ser
ankyrin-2 isoform 62	NP_001373085.1:p.Pro1626=	NP_001373085.1:p.Pro1626Thr	NP_001373085.1:p.Pro1626Ala	NP_001373085.1:p.Pro1626Ser
ankyrin-2 isoform 43	NP_001373091.1:p.Pro1651=	NP_001373091.1:p.Pro1651Thr	NP_001373091.1:p.Pro1651Ala	NP_001373091.1:p.Pro1651Ser
ankyrin-2 isoform 63	NP_001373086.1:p.Pro1585=	NP_001373086.1:p.Pro1585Thr	NP_001373086.1:p.Pro1585Ala	NP_001373086.1:p.Pro1585Ser
ankyrin-2 isoform 64	NP_001373087.1:p.Pro1552=	NP_001373087.1:p.Pro1552Thr	NP_001373087.1:p.Pro1552Ala	NP_001373087.1:p.Pro1552Ser
ankyrin-2 isoform 66	NP_001373096.1:p.Pro513=	NP_001373096.1:p.Pro513Thr	NP_001373096.1:p.Pro513Ala	NP_001373096.1:p.Pro513Ser

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

4 SubSNP, 4 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GNOMAD	ss4118422680	Apr 27, 2021 (155)
2	TOPMED	ss4628023783	Apr 27, 2021 (155)
3	TOPMED	ss4628023784	Apr 27, 2021 (155)
4	EVA	ss5935722413	Oct 17, 2022 (156)
5	gnomAD - Genomes	NC_000004.12 - 113369587	Apr 27, 2021 (155)
6	TopMed Submission ignored due to conflicting rows: Row 465401339 (NC_000004.12:113369586:C:G 6/264690) Row 465401340 (NC_000004.12:113369586:C:T 1/264690)	-	Apr 27, 2021 (155)
7	TopMed Submission ignored due to conflicting rows: Row 465401339 (NC_000004.12:113369586:C:G 6/264690) Row 465401340 (NC_000004.12:113369586:C:T 1/264690)	-	Apr 27, 2021 (155)
8	ALFA	NC_000004.12 - 113369587	Apr 27, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5935722413	NC_000004.11:114290742:C:A	NC_000004.12:113369586:C:A
ss5935722413	NC_000004.11:114290742:C:G	NC_000004.12:113369586:C:G
161648665, 11433685748, ss4118422680, ss4628023783	NC_000004.12:113369586:C:G	NC_000004.12:113369586:C:G	(self)
ss5935722413	NC_000004.11:114290742:C:T	NC_000004.12:113369586:C:T
11433685748, ss4628023784	NC_000004.12:113369586:C:T	NC_000004.12:113369586:C:T	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1483776959

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1483776959