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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1443089347

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:113628668 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000005 (1/215942, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RABL2A : Missense Variant
RPL23AP7 : 2KB Upstream Variant
Publications
0 citations
Genomic View
See rs on genome
Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 215942 A=0.999995 G=0.000005
gnomAD - Exomes European Sub 115474 A=1.000000 G=0.000000
gnomAD - Exomes Asian Sub 41848 A=0.99998 G=0.00002
gnomAD - Exomes American Sub 31272 A=1.00000 G=0.00000
gnomAD - Exomes African Sub 14812 A=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 7220 A=1.0000 G=0.0000
gnomAD - Exomes Other Sub 5316 A=1.0000 G=0.0000
Help

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 2 NC_000002.12:g.113628668A>G
GRCh37.p13 chr 2 NC_000002.11:g.114386245A>G
Gene: RABL2A, RAB, member of RAS oncogene family like 2A (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RABL2A transcript variant 23 NM_001354425.2:c.-217= N/A 5 Prime UTR Variant
RABL2A transcript variant 25 NM_001354427.2:c.-135= N/A 5 Prime UTR Variant
RABL2A transcript variant 26 NM_001354428.2:c.-135= N/A 5 Prime UTR Variant
RABL2A transcript variant 24 NM_001354426.2:c.-190= N/A 5 Prime UTR Variant
RABL2A transcript variant 6 NM_001306161.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform 4 NP_001293090.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant 1 NM_013412.4:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform 1 NP_038198.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant 3 NM_001306158.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform 2 NP_001293087.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant 10 NM_001354408.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform 5 NP_001341337.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant 18 NM_001354418.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform 7 NP_001341347.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant 20 NM_001354421.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform 4 NP_001341350.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant 21 NM_001354423.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform 4 NP_001341352.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant 7 NM_001354405.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform 5 NP_001341334.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant 17 NM_001354417.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform 6 NP_001341346.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant 16 NM_001354416.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform 1 NP_001341345.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant 22 NM_001354424.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform 8 NP_001341353.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant 2 NM_007082.5:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform 1 NP_009013.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant 11 NM_001354409.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform 5 NP_001341338.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant 13 NM_001354412.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform 2 NP_001341341.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant 4 NM_001306159.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform 2 NP_001293088.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant 12 NM_001354410.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform 3 NP_001341339.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant 19 NM_001354419.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform 7 NP_001341348.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant 14 NM_001354413.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform 2 NP_001341342.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant 9 NM_001354407.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform 5 NP_001341336.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant 5 NM_001306160.3:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform 3 NP_001293089.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant 15 NM_001354414.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform 2 NP_001341343.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant 8 NM_001354406.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform 5 NP_001341335.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant 28 NR_148880.2:n.254A>G N/A Non Coding Transcript Variant
RABL2A transcript variant 27 NR_148879.2:n.250A>G N/A Non Coding Transcript Variant
RABL2A transcript variant 29 NR_148881.2:n.254A>G N/A Non Coding Transcript Variant
RABL2A transcript variant 30 NR_148882.2:n.250A>G N/A Non Coding Transcript Variant
RABL2A transcript variant X27 XM_047443058.1:c. N/A Genic Upstream Transcript Variant
RABL2A transcript variant X28 XM_047443059.1:c. N/A Genic Upstream Transcript Variant
RABL2A transcript variant X29 XM_047443060.1:c. N/A Genic Upstream Transcript Variant
RABL2A transcript variant X30 XM_047443061.1:c. N/A Genic Upstream Transcript Variant
RABL2A transcript variant X5 XM_011510509.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X1 XP_011508811.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant X1 XM_047443039.1:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X1 XP_047298995.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant X2 XM_017003207.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X1 XP_016858696.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant X3 XM_047443041.1:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X1 XP_047298997.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant X4 XM_017003205.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X1 XP_016858694.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant X6 XM_024452573.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X2 XP_024308341.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant X7 XM_047443043.1:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X2 XP_047298999.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant X8 XM_017003211.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X3 XP_016858700.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant X9 XM_017003210.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X3 XP_016858699.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant X10 XM_047443044.1:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X3 XP_047299000.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant X11 XM_017003212.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X4 XP_016858701.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant X12 XM_047443045.1:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X5 XP_047299001.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant X13 XM_017003215.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X5 XP_016858704.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant X14 XM_024452575.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X5 XP_024308343.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant X15 XM_047443047.1:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X5 XP_047299003.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant X16 XM_047443048.1:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X5 XP_047299004.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant X17 XM_017003220.2:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X6 XP_016858709.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant X18 XM_047443049.1:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X6 XP_047299005.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant X19 XM_047443050.1:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X6 XP_047299006.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant X20 XM_047443051.1:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X6 XP_047299007.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant X21 XM_047443052.1:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X7 XP_047299008.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant X22 XM_047443053.1:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X8 XP_047299009.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant X23 XM_047443054.1:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X8 XP_047299010.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant X24 XM_047443055.1:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X8 XP_047299011.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant X25 XM_047443056.1:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X8 XP_047299012.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant X26 XM_047443057.1:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X9 XP_047299013.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant X31 XM_047443062.1:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X13 XP_047299018.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
RABL2A transcript variant X32 XM_047443063.1:c.62A>G N [AAC] > S [AGC] Coding Sequence Variant
rab-like protein 2A isoform X13 XP_047299019.1:p.Asn21Ser N (Asn) > S (Ser) Missense Variant
Gene: RPL23AP7, ribosomal protein L23a pseudogene 7 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
RPL23AP7 transcript variant 3 NR_000029.3:n. N/A Upstream Transcript Variant
RPL23AP7 transcript variant 1 NR_024528.1:n. N/A Upstream Transcript Variant
RPL23AP7 transcript variant 2 NR_024529.1:n. N/A Upstream Transcript Variant
RPL23AP7 transcript variant 4 NR_024530.1:n. N/A Upstream Transcript Variant
RPL23AP7 transcript variant 5 NR_024531.1:n. N/A Upstream Transcript Variant
Help

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
Help

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 A= G
GRCh38.p14 chr 2 NC_000002.12:g.113628668= NC_000002.12:g.113628668A>G
GRCh37.p13 chr 2 NC_000002.11:g.114386245= NC_000002.11:g.114386245A>G
RABL2A transcript variant 2 NM_007082.5:c.62= NM_007082.5:c.62A>G
RABL2A transcript variant 2 NM_007082.4:c.62= NM_007082.4:c.62A>G
RABL2A transcript variant 2 NM_007082.3:c.62= NM_007082.3:c.62A>G
RABL2A transcript variant 1 NM_013412.4:c.62= NM_013412.4:c.62A>G
RABL2A transcript variant 1 NM_013412.3:c.62= NM_013412.3:c.62A>G
RABL2A transcript variant 1 NM_013412.2:c.62= NM_013412.2:c.62A>G
RABL2A transcript variant 5 NM_001306160.3:c.62= NM_001306160.3:c.62A>G
RABL2A transcript variant 5 NM_001306160.2:c.62= NM_001306160.2:c.62A>G
RABL2A transcript variant 5 NM_001306160.1:c.62= NM_001306160.1:c.62A>G
RABL2A transcript variant X6 XM_024452573.2:c.62= XM_024452573.2:c.62A>G
RABL2A transcript variant X8 XM_024452573.1:c.62= XM_024452573.1:c.62A>G
RABL2A transcript variant X17 XM_017003220.2:c.62= XM_017003220.2:c.62A>G
RABL2A transcript variant X17 XM_017003220.1:c.62= XM_017003220.1:c.62A>G
RABL2A transcript variant 11 NM_001354409.2:c.62= NM_001354409.2:c.62A>G
RABL2A transcript variant 11 NM_001354409.1:c.62= NM_001354409.1:c.62A>G
RABL2A transcript variant 7 NM_001354405.2:c.62= NM_001354405.2:c.62A>G
RABL2A transcript variant 7 NM_001354405.1:c.62= NM_001354405.1:c.62A>G
RABL2A transcript variant 15 NM_001354414.2:c.62= NM_001354414.2:c.62A>G
RABL2A transcript variant 15 NM_001354414.1:c.62= NM_001354414.1:c.62A>G
RABL2A transcript variant X14 XM_024452575.2:c.62= XM_024452575.2:c.62A>G
RABL2A transcript variant X16 XM_024452575.1:c.62= XM_024452575.1:c.62A>G
RABL2A transcript variant 10 NM_001354408.2:c.62= NM_001354408.2:c.62A>G
RABL2A transcript variant 10 NM_001354408.1:c.62= NM_001354408.1:c.62A>G
RABL2A transcript variant 14 NM_001354413.2:c.62= NM_001354413.2:c.62A>G
RABL2A transcript variant 14 NM_001354413.1:c.62= NM_001354413.1:c.62A>G
RABL2A transcript variant X2 XM_017003207.2:c.62= XM_017003207.2:c.62A>G
RABL2A transcript variant X6 XM_017003207.1:c.62= XM_017003207.1:c.62A>G
RABL2A transcript variant 23 NM_001354425.2:c.-217= NM_001354425.2:c.-217A>G
RABL2A transcript variant 23 NM_001354425.1:c.-217= NM_001354425.1:c.-217A>G
RABL2A transcript variant X5 XM_011510509.2:c.62= XM_011510509.2:c.62A>G
RABL2A transcript variant X6 XM_011510509.1:c.62= XM_011510509.1:c.62A>G
RABL2A transcript variant 8 NM_001354406.2:c.62= NM_001354406.2:c.62A>G
RABL2A transcript variant 8 NM_001354406.1:c.62= NM_001354406.1:c.62A>G
RABL2A transcript variant 12 NM_001354410.2:c.62= NM_001354410.2:c.62A>G
RABL2A transcript variant 12 NM_001354410.1:c.62= NM_001354410.1:c.62A>G
RABL2A transcript variant 9 NM_001354407.2:c.62= NM_001354407.2:c.62A>G
RABL2A transcript variant 9 NM_001354407.1:c.62= NM_001354407.1:c.62A>G
RABL2A transcript variant X9 XM_017003210.2:c.62= XM_017003210.2:c.62A>G
RABL2A transcript variant X9 XM_017003210.1:c.62= XM_017003210.1:c.62A>G
RABL2A transcript variant X11 XM_017003212.2:c.62= XM_017003212.2:c.62A>G
RABL2A transcript variant X11 XM_017003212.1:c.62= XM_017003212.1:c.62A>G
RABL2A transcript variant X8 XM_017003211.2:c.62= XM_017003211.2:c.62A>G
RABL2A transcript variant X10 XM_017003211.1:c.62= XM_017003211.1:c.62A>G
RABL2A transcript variant 13 NM_001354412.2:c.62= NM_001354412.2:c.62A>G
RABL2A transcript variant 13 NM_001354412.1:c.62= NM_001354412.1:c.62A>G
RABL2A transcript variant 16 NM_001354416.2:c.62= NM_001354416.2:c.62A>G
RABL2A transcript variant 16 NM_001354416.1:c.62= NM_001354416.1:c.62A>G
RABL2A transcript variant 3 NM_001306158.2:c.62= NM_001306158.2:c.62A>G
RABL2A transcript variant 3 NM_001306158.1:c.62= NM_001306158.1:c.62A>G
RABL2A transcript variant 24 NM_001354426.2:c.-190= NM_001354426.2:c.-190A>G
RABL2A transcript variant 24 NM_001354426.1:c.-190= NM_001354426.1:c.-190A>G
RABL2A transcript variant 21 NM_001354423.2:c.62= NM_001354423.2:c.62A>G
RABL2A transcript variant 21 NM_001354423.1:c.62= NM_001354423.1:c.62A>G
RABL2A transcript variant X4 XM_017003205.2:c.62= XM_017003205.2:c.62A>G
RABL2A transcript variant X3 XM_017003205.1:c.62= XM_017003205.1:c.62A>G
RABL2A transcript variant 25 NM_001354427.2:c.-135= NM_001354427.2:c.-135A>G
RABL2A transcript variant 25 NM_001354427.1:c.-135= NM_001354427.1:c.-135A>G
RABL2A transcript variant 26 NM_001354428.2:c.-135= NM_001354428.2:c.-135A>G
RABL2A transcript variant 26 NM_001354428.1:c.-135= NM_001354428.1:c.-135A>G
RABL2A transcript variant X13 XM_017003215.2:c.62= XM_017003215.2:c.62A>G
RABL2A transcript variant X14 XM_017003215.1:c.62= XM_017003215.1:c.62A>G
RABL2A transcript variant 29 NR_148881.2:n.254= NR_148881.2:n.254A>G
RABL2A transcript variant 29 NR_148881.1:n.291= NR_148881.1:n.291A>G
RABL2A transcript variant 30 NR_148882.2:n.250= NR_148882.2:n.250A>G
RABL2A transcript variant 30 NR_148882.1:n.287= NR_148882.1:n.287A>G
RABL2A transcript variant 27 NR_148879.2:n.250= NR_148879.2:n.250A>G
RABL2A transcript variant 27 NR_148879.1:n.287= NR_148879.1:n.287A>G
RABL2A transcript variant 19 NM_001354419.2:c.62= NM_001354419.2:c.62A>G
RABL2A transcript variant 19 NM_001354419.1:c.62= NM_001354419.1:c.62A>G
RABL2A transcript variant 18 NM_001354418.2:c.62= NM_001354418.2:c.62A>G
RABL2A transcript variant 18 NM_001354418.1:c.62= NM_001354418.1:c.62A>G
RABL2A transcript variant 6 NM_001306161.2:c.62= NM_001306161.2:c.62A>G
RABL2A transcript variant 6 NM_001306161.1:c.62= NM_001306161.1:c.62A>G
RABL2A transcript variant 28 NR_148880.2:n.254= NR_148880.2:n.254A>G
RABL2A transcript variant 28 NR_148880.1:n.291= NR_148880.1:n.291A>G
RABL2A transcript variant 20 NM_001354421.2:c.62= NM_001354421.2:c.62A>G
RABL2A transcript variant 20 NM_001354421.1:c.62= NM_001354421.1:c.62A>G
RABL2A transcript variant 22 NM_001354424.2:c.62= NM_001354424.2:c.62A>G
RABL2A transcript variant 22 NM_001354424.1:c.62= NM_001354424.1:c.62A>G
RABL2A transcript variant 4 NM_001306159.2:c.62= NM_001306159.2:c.62A>G
RABL2A transcript variant 4 NM_001306159.1:c.62= NM_001306159.1:c.62A>G
RABL2A transcript variant 17 NM_001354417.2:c.62= NM_001354417.2:c.62A>G
RABL2A transcript variant 17 NM_001354417.1:c.62= NM_001354417.1:c.62A>G
RABL2A transcript variant X1 XM_047443039.1:c.62= XM_047443039.1:c.62A>G
RABL2A transcript variant X12 XM_047443045.1:c.62= XM_047443045.1:c.62A>G
RABL2A transcript variant X22 XM_047443053.1:c.62= XM_047443053.1:c.62A>G
RABL2A transcript variant X3 XM_047443041.1:c.62= XM_047443041.1:c.62A>G
RABL2A transcript variant X10 XM_047443044.1:c.62= XM_047443044.1:c.62A>G
RABL2A transcript variant X18 XM_047443049.1:c.62= XM_047443049.1:c.62A>G
RABL2A transcript variant X23 XM_047443054.1:c.62= XM_047443054.1:c.62A>G
RABL2A transcript variant X25 XM_047443056.1:c.62= XM_047443056.1:c.62A>G
RABL2A transcript variant X19 XM_047443050.1:c.62= XM_047443050.1:c.62A>G
RABL2A transcript variant X21 XM_047443052.1:c.62= XM_047443052.1:c.62A>G
RABL2A transcript variant X26 XM_047443057.1:c.62= XM_047443057.1:c.62A>G
RABL2A transcript variant X24 XM_047443055.1:c.62= XM_047443055.1:c.62A>G
RABL2A transcript variant X15 XM_047443047.1:c.62= XM_047443047.1:c.62A>G
RABL2A transcript variant X7 XM_047443043.1:c.62= XM_047443043.1:c.62A>G
RABL2A transcript variant X16 XM_047443048.1:c.62= XM_047443048.1:c.62A>G
RABL2A transcript variant X20 XM_047443051.1:c.62= XM_047443051.1:c.62A>G
RABL2A transcript variant X32 XM_047443063.1:c.62= XM_047443063.1:c.62A>G
RABL2A transcript variant X31 XM_047443062.1:c.62= XM_047443062.1:c.62A>G
rab-like protein 2A isoform 1 NP_009013.1:p.Asn21= NP_009013.1:p.Asn21Ser
rab-like protein 2A isoform 1 NP_038198.1:p.Asn21= NP_038198.1:p.Asn21Ser
rab-like protein 2A isoform 3 NP_001293089.1:p.Asn21= NP_001293089.1:p.Asn21Ser
rab-like protein 2A isoform X2 XP_024308341.1:p.Asn21= XP_024308341.1:p.Asn21Ser
rab-like protein 2A isoform X6 XP_016858709.1:p.Asn21= XP_016858709.1:p.Asn21Ser
rab-like protein 2A isoform 5 NP_001341338.1:p.Asn21= NP_001341338.1:p.Asn21Ser
rab-like protein 2A isoform 5 NP_001341334.1:p.Asn21= NP_001341334.1:p.Asn21Ser
rab-like protein 2A isoform 2 NP_001341343.1:p.Asn21= NP_001341343.1:p.Asn21Ser
rab-like protein 2A isoform X5 XP_024308343.1:p.Asn21= XP_024308343.1:p.Asn21Ser
rab-like protein 2A isoform 5 NP_001341337.1:p.Asn21= NP_001341337.1:p.Asn21Ser
rab-like protein 2A isoform 2 NP_001341342.1:p.Asn21= NP_001341342.1:p.Asn21Ser
rab-like protein 2A isoform X1 XP_016858696.1:p.Asn21= XP_016858696.1:p.Asn21Ser
rab-like protein 2A isoform X1 XP_011508811.1:p.Asn21= XP_011508811.1:p.Asn21Ser
rab-like protein 2A isoform 5 NP_001341335.1:p.Asn21= NP_001341335.1:p.Asn21Ser
rab-like protein 2A isoform 3 NP_001341339.1:p.Asn21= NP_001341339.1:p.Asn21Ser
rab-like protein 2A isoform 5 NP_001341336.1:p.Asn21= NP_001341336.1:p.Asn21Ser
rab-like protein 2A isoform X3 XP_016858699.1:p.Asn21= XP_016858699.1:p.Asn21Ser
rab-like protein 2A isoform X4 XP_016858701.1:p.Asn21= XP_016858701.1:p.Asn21Ser
rab-like protein 2A isoform X3 XP_016858700.1:p.Asn21= XP_016858700.1:p.Asn21Ser
rab-like protein 2A isoform 2 NP_001341341.1:p.Asn21= NP_001341341.1:p.Asn21Ser
rab-like protein 2A isoform 1 NP_001341345.1:p.Asn21= NP_001341345.1:p.Asn21Ser
rab-like protein 2A isoform 2 NP_001293087.1:p.Asn21= NP_001293087.1:p.Asn21Ser
rab-like protein 2A isoform 4 NP_001341352.1:p.Asn21= NP_001341352.1:p.Asn21Ser
rab-like protein 2A isoform X1 XP_016858694.1:p.Asn21= XP_016858694.1:p.Asn21Ser
rab-like protein 2A isoform X5 XP_016858704.1:p.Asn21= XP_016858704.1:p.Asn21Ser
rab-like protein 2A isoform 7 NP_001341348.1:p.Asn21= NP_001341348.1:p.Asn21Ser
rab-like protein 2A isoform 7 NP_001341347.1:p.Asn21= NP_001341347.1:p.Asn21Ser
rab-like protein 2A isoform 4 NP_001293090.1:p.Asn21= NP_001293090.1:p.Asn21Ser
rab-like protein 2A isoform 4 NP_001341350.1:p.Asn21= NP_001341350.1:p.Asn21Ser
rab-like protein 2A isoform 8 NP_001341353.1:p.Asn21= NP_001341353.1:p.Asn21Ser
rab-like protein 2A isoform 2 NP_001293088.1:p.Asn21= NP_001293088.1:p.Asn21Ser
rab-like protein 2A isoform 6 NP_001341346.1:p.Asn21= NP_001341346.1:p.Asn21Ser
rab-like protein 2A isoform X1 XP_047298995.1:p.Asn21= XP_047298995.1:p.Asn21Ser
rab-like protein 2A isoform X5 XP_047299001.1:p.Asn21= XP_047299001.1:p.Asn21Ser
rab-like protein 2A isoform X8 XP_047299009.1:p.Asn21= XP_047299009.1:p.Asn21Ser
rab-like protein 2A isoform X1 XP_047298997.1:p.Asn21= XP_047298997.1:p.Asn21Ser
rab-like protein 2A isoform X3 XP_047299000.1:p.Asn21= XP_047299000.1:p.Asn21Ser
rab-like protein 2A isoform X6 XP_047299005.1:p.Asn21= XP_047299005.1:p.Asn21Ser
rab-like protein 2A isoform X8 XP_047299010.1:p.Asn21= XP_047299010.1:p.Asn21Ser
rab-like protein 2A isoform X8 XP_047299012.1:p.Asn21= XP_047299012.1:p.Asn21Ser
rab-like protein 2A isoform X6 XP_047299006.1:p.Asn21= XP_047299006.1:p.Asn21Ser
rab-like protein 2A isoform X7 XP_047299008.1:p.Asn21= XP_047299008.1:p.Asn21Ser
rab-like protein 2A isoform X9 XP_047299013.1:p.Asn21= XP_047299013.1:p.Asn21Ser
rab-like protein 2A isoform X8 XP_047299011.1:p.Asn21= XP_047299011.1:p.Asn21Ser
rab-like protein 2A isoform X5 XP_047299003.1:p.Asn21= XP_047299003.1:p.Asn21Ser
rab-like protein 2A isoform X2 XP_047298999.1:p.Asn21= XP_047298999.1:p.Asn21Ser
rab-like protein 2A isoform X5 XP_047299004.1:p.Asn21= XP_047299004.1:p.Asn21Ser
rab-like protein 2A isoform X6 XP_047299007.1:p.Asn21= XP_047299007.1:p.Asn21Ser
rab-like protein 2A isoform X13 XP_047299019.1:p.Asn21= XP_047299019.1:p.Asn21Ser
rab-like protein 2A isoform X13 XP_047299018.1:p.Asn21= XP_047299018.1:p.Asn21Ser
Help

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#.

1 SubSNP, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2732932549 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000002.11 - 114386245 Jul 13, 2019 (153)
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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
1989037, ss2732932549 NC_000002.11:114386244:A:G NC_000002.12:113628667:A:G (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1443089347

Help

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.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d