dbSNP Short Genetic Variations
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.
rs1467681661
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr16:28830736 (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>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.000008 (2/264690, TOPMED)T=0.000007 (1/140164, GnomAD)T=0.00000 (0/14050, ALFA)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- ATXN2L : 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.
Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
---|---|---|---|---|---|---|---|---|
Total | Global | 14050 | C=1.00000 | T=0.00000 | 1.0 | 0.0 | 0.0 | N/A |
European | Sub | 9690 | C=1.0000 | T=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
African | Sub | 2898 | C=1.0000 | T=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
African Others | Sub | 114 | C=1.000 | T=0.000 | 1.0 | 0.0 | 0.0 | N/A |
African American | Sub | 2784 | C=1.0000 | T=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
Asian | Sub | 112 | C=1.000 | T=0.000 | 1.0 | 0.0 | 0.0 | N/A |
East Asian | Sub | 86 | C=1.00 | T=0.00 | 1.0 | 0.0 | 0.0 | N/A |
Other Asian | Sub | 26 | C=1.00 | T=0.00 | 1.0 | 0.0 | 0.0 | N/A |
Latin American 1 | Sub | 146 | C=1.000 | T=0.000 | 1.0 | 0.0 | 0.0 | N/A |
Latin American 2 | Sub | 610 | C=1.000 | T=0.000 | 1.0 | 0.0 | 0.0 | N/A |
South Asian | Sub | 98 | C=1.00 | T=0.00 | 1.0 | 0.0 | 0.0 | N/A |
Other | Sub | 496 | C=1.000 | T=0.000 | 1.0 | 0.0 | 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").
DownloadStudy | Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|---|
TopMed | Global | Study-wide | 264690 | C=0.999992 | T=0.000008 |
gnomAD - Genomes | Global | Study-wide | 140164 | C=0.999993 | T=0.000007 |
gnomAD - Genomes | European | Sub | 75914 | C=0.99999 | T=0.00001 |
gnomAD - Genomes | African | Sub | 42002 | C=1.00000 | T=0.00000 |
gnomAD - Genomes | American | Sub | 13646 | C=1.00000 | T=0.00000 |
gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | C=1.0000 | T=0.0000 |
gnomAD - Genomes | East Asian | Sub | 3128 | C=1.0000 | T=0.0000 |
gnomAD - Genomes | Other | Sub | 2152 | C=1.0000 | T=0.0000 |
Allele Frequency Aggregator | Total | Global | 14050 | C=1.00000 | T=0.00000 |
Allele Frequency Aggregator | European | Sub | 9690 | C=1.0000 | T=0.0000 |
Allele Frequency Aggregator | African | Sub | 2898 | C=1.0000 | T=0.0000 |
Allele Frequency Aggregator | Latin American 2 | Sub | 610 | C=1.000 | T=0.000 |
Allele Frequency Aggregator | Other | Sub | 496 | C=1.000 | T=0.000 |
Allele Frequency Aggregator | Latin American 1 | Sub | 146 | C=1.000 | T=0.000 |
Allele Frequency Aggregator | Asian | Sub | 112 | C=1.000 | T=0.000 |
Allele Frequency Aggregator | South Asian | Sub | 98 | C=1.00 | 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.
Sequence name | Change |
---|---|
GRCh38.p14 chr 16 | NC_000016.10:g.28830736C>T |
GRCh37.p13 chr 16 | NC_000016.9:g.28842057C>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
ATXN2L transcript variant 36 | NM_001387194.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 30 | NP_001374123.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 1 | NM_007245.4:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 1 | NP_009176.2:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 7 | NM_001308230.2:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 7 | NP_001295159.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 37 | NM_001387195.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 31 | NP_001374124.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 32 | NM_001387190.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 26 | NP_001374119.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 16 | NM_001387174.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 13 | NP_001374103.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 13 | NM_001387171.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 10 | NP_001374100.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 42 | NM_001387200.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 34 | NP_001374129.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 4 | NM_148415.3:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 4 | NP_680781.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 22 | NM_001387180.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 16 | NP_001374109.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 20 | NM_001387178.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 14 | NP_001374107.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 23 | NM_001387181.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 17 | NP_001374110.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 10 | NM_001387168.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 3 | NP_001374097.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 39 | NM_001387198.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 31 | NP_001374127.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 18 | NM_001387176.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 13 | NP_001374105.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 21 | NM_001387179.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 15 | NP_001374108.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 34 | NM_001387192.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 28 | NP_001374121.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 19 | NM_001387177.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 13 | NP_001374106.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 35 | NM_001387193.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 29 | NP_001374122.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 44 | NM_001387203.1:c.990C>T | T [ACC] > T [ACT] | Coding Sequence Variant |
ataxin-2-like protein isoform 36 | NP_001374132.1:p.Thr330= | T (Thr) > T (Thr) | Synonymous Variant |
ATXN2L transcript variant 24 | NM_001387182.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 18 | NP_001374111.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 6 | NM_017492.4:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 6 | NP_059867.3:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 11 | NM_001387169.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 9 | NP_001374098.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 29 | NM_001387187.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 23 | NP_001374116.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 5 | NM_148416.3:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 5 | NP_680782.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 15 | NM_001387173.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 12 | NP_001374102.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 28 | NM_001387186.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 22 | NP_001374115.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 38 | NM_001387196.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 31 | NP_001374125.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 41 | NM_001387199.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 33 | NP_001374128.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 3 | NM_148414.3:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 3 | NP_680780.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 27 | NM_001387185.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 21 | NP_001374114.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 14 | NM_001387172.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 11 | NP_001374101.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 9 | NM_001387167.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 3 | NP_001374096.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 43 | NM_001387202.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 35 | NP_001374131.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 25 | NM_001387183.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 19 | NP_001374112.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 2 | NM_145714.3:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 2 | NP_663760.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 17 | NM_001387175.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 13 | NP_001374104.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 8 | NM_001387166.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 8 | NP_001374095.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 31 | NM_001387189.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 25 | NP_001374118.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 45 | NM_001387204.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 37 | NP_001374133.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 26 | NM_001387184.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 20 | NP_001374113.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 33 | NM_001387191.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 27 | NP_001374120.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 12 | NM_001387170.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 9 | NP_001374099.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 30 | NM_001387188.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 24 | NP_001374117.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant 40 | NM_001387197.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform 32 | NP_001374126.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X1 | XM_005255062.2:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X1 | XP_005255119.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X2 | XM_011545719.3:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X1 | XP_011544021.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X3 | XM_047433525.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X1 | XP_047289481.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X4 | XM_047433526.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X2 | XP_047289482.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X5 | XM_005255074.2:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X3 | XP_005255131.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X6 | XM_006721011.2:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X4 | XP_006721074.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X7 | XM_006721012.5:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X4 | XP_006721075.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X8 | XM_047433527.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X4 | XP_047289483.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X9 | XM_047433528.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X4 | XP_047289484.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X10 | XM_047433529.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X4 | XP_047289485.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X11 | XM_047433530.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X5 | XP_047289486.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X12 | XM_047433531.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X6 | XP_047289487.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X13 | XM_047433532.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X7 | XP_047289488.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X14 | XM_047433533.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X8 | XP_047289489.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X15 | XM_047433534.1:c.976C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X9 | XP_047289490.1:p.His326Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X16 | XM_047433535.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X10 | XP_047289491.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X17 | XM_047433536.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X11 | XP_047289492.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X18 | XM_047433537.1:c.1156C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X12 | XP_047289493.1:p.His386Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X19 | XM_047433538.1:c.976C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X13 | XP_047289494.1:p.His326Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X20 | XM_047433539.1:c.976C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X14 | XP_047289495.1:p.His326Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X21 | XM_047433540.1:c.976C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X15 | XP_047289496.1:p.His326Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X22 | XM_047433541.1:c.976C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X16 | XP_047289497.1:p.His326Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X23 | XM_047433542.1:c.976C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X17 | XP_047289498.1:p.His326Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X24 | XM_047433543.1:c.976C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X18 | XP_047289499.1:p.His326Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X25 | XM_047433544.1:c.976C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X19 | XP_047289500.1:p.His326Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X26 | XM_047433545.1:c.976C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X20 | XP_047289501.1:p.His326Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X27 | XM_047433546.1:c.976C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X21 | XP_047289502.1:p.His326Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X28 | XM_047433548.1:c.976C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X22 | XP_047289504.1:p.His326Tyr | H (His) > Y (Tyr) | Missense Variant |
ATXN2L transcript variant X29 | XM_047433549.1:c.976C>T | H [CAT] > Y [TAT] | Coding Sequence Variant |
ataxin-2-like protein isoform X23 | XP_047289505.1:p.His326Tyr | H (His) > Y (Tyr) | 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.
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= | T |
---|---|---|
GRCh38.p14 chr 16 | NC_000016.10:g.28830736= | NC_000016.10:g.28830736C>T |
GRCh37.p13 chr 16 | NC_000016.9:g.28842057= | NC_000016.9:g.28842057C>T |
ATXN2L transcript variant X7 | XM_006721012.5:c.1156= | XM_006721012.5:c.1156C>T |
ATXN2L transcript variant X23 | XM_006721012.4:c.1156= | XM_006721012.4:c.1156C>T |
ATXN2L transcript variant X23 | XM_006721012.3:c.1156= | XM_006721012.3:c.1156C>T |
ATXN2L transcript variant X24 | XM_006721012.2:c.1156= | XM_006721012.2:c.1156C>T |
ATXN2L transcript variant X24 | XM_006721012.1:c.1156= | XM_006721012.1:c.1156C>T |
ATXN2L transcript variant 1 | NM_007245.4:c.1156= | NM_007245.4:c.1156C>T |
ATXN2L transcript variant A | NM_007245.3:c.1156= | NM_007245.3:c.1156C>T |
ATXN2L transcript variant 6 | NM_017492.4:c.1156= | NM_017492.4:c.1156C>T |
ATXN2L transcript variant F | NM_017492.3:c.1156= | NM_017492.3:c.1156C>T |
ATXN2L transcript variant X2 | XM_011545719.3:c.1156= | XM_011545719.3:c.1156C>T |
ATXN2L transcript variant X3 | XM_011545719.2:c.1156= | XM_011545719.2:c.1156C>T |
ATXN2L transcript variant X3 | XM_011545719.1:c.1156= | XM_011545719.1:c.1156C>T |
ATXN2L transcript variant 3 | NM_148414.3:c.1156= | NM_148414.3:c.1156C>T |
ATXN2L transcript variant C | NM_148414.2:c.1156= | NM_148414.2:c.1156C>T |
ATXN2L transcript variant 2 | NM_145714.3:c.1156= | NM_145714.3:c.1156C>T |
ATXN2L transcript variant B | NM_145714.2:c.1156= | NM_145714.2:c.1156C>T |
ATXN2L transcript variant 4 | NM_148415.3:c.1156= | NM_148415.3:c.1156C>T |
ATXN2L transcript variant D | NM_148415.2:c.1156= | NM_148415.2:c.1156C>T |
ATXN2L transcript variant 5 | NM_148416.3:c.1156= | NM_148416.3:c.1156C>T |
ATXN2L transcript variant E | NM_148416.2:c.1156= | NM_148416.2:c.1156C>T |
ATXN2L transcript variant X6 | XM_006721011.2:c.1156= | XM_006721011.2:c.1156C>T |
ATXN2L transcript variant X22 | XM_006721011.1:c.1156= | XM_006721011.1:c.1156C>T |
ATXN2L transcript variant X1 | XM_005255062.2:c.1156= | XM_005255062.2:c.1156C>T |
ATXN2L transcript variant X2 | XM_005255062.1:c.1156= | XM_005255062.1:c.1156C>T |
ATXN2L transcript variant 7 | NM_001308230.2:c.1156= | NM_001308230.2:c.1156C>T |
ATXN2L transcript variant G | NM_001308230.1:c.1156= | NM_001308230.1:c.1156C>T |
ATXN2L transcript variant X5 | XM_005255074.2:c.1156= | XM_005255074.2:c.1156C>T |
ATXN2L transcript variant X19 | XM_005255074.1:c.1156= | XM_005255074.1:c.1156C>T |
ATXN2L transcript variant 13 | NM_001387171.1:c.1156= | NM_001387171.1:c.1156C>T |
ATXN2L transcript variant 14 | NM_001387172.1:c.1156= | NM_001387172.1:c.1156C>T |
ATXN2L transcript variant 20 | NM_001387178.1:c.1156= | NM_001387178.1:c.1156C>T |
ATXN2L transcript variant 22 | NM_001387180.1:c.1156= | NM_001387180.1:c.1156C>T |
ATXN2L transcript variant X4 | XM_047433526.1:c.1156= | XM_047433526.1:c.1156C>T |
ATXN2L transcript variant 29 | NM_001387187.1:c.1156= | NM_001387187.1:c.1156C>T |
ATXN2L transcript variant 28 | NM_001387186.1:c.1156= | NM_001387186.1:c.1156C>T |
ATXN2L transcript variant 30 | NM_001387188.1:c.1156= | NM_001387188.1:c.1156C>T |
ATXN2L transcript variant X15 | XM_047433534.1:c.976= | XM_047433534.1:c.976C>T |
ATXN2L transcript variant 44 | NM_001387203.1:c.990= | NM_001387203.1:c.990C>T |
ATXN2L transcript variant X19 | XM_047433538.1:c.976= | XM_047433538.1:c.976C>T |
ATXN2L transcript variant X20 | XM_047433539.1:c.976= | XM_047433539.1:c.976C>T |
ATXN2L transcript variant X11 | XM_047433530.1:c.1156= | XM_047433530.1:c.1156C>T |
ATXN2L transcript variant X12 | XM_047433531.1:c.1156= | XM_047433531.1:c.1156C>T |
ATXN2L transcript variant X13 | XM_047433532.1:c.1156= | XM_047433532.1:c.1156C>T |
ATXN2L transcript variant 8 | NM_001387166.1:c.1156= | NM_001387166.1:c.1156C>T |
ATXN2L transcript variant X17 | XM_047433536.1:c.1156= | XM_047433536.1:c.1156C>T |
ATXN2L transcript variant X3 | XM_047433525.1:c.1156= | XM_047433525.1:c.1156C>T |
ATXN2L transcript variant 10 | NM_001387168.1:c.1156= | NM_001387168.1:c.1156C>T |
ATXN2L transcript variant X18 | XM_047433537.1:c.1156= | XM_047433537.1:c.1156C>T |
ATXN2L transcript variant 9 | NM_001387167.1:c.1156= | NM_001387167.1:c.1156C>T |
ATXN2L transcript variant 12 | NM_001387170.1:c.1156= | NM_001387170.1:c.1156C>T |
ATXN2L transcript variant 15 | NM_001387173.1:c.1156= | NM_001387173.1:c.1156C>T |
ATXN2L transcript variant 16 | NM_001387174.1:c.1156= | NM_001387174.1:c.1156C>T |
ATXN2L transcript variant 18 | NM_001387176.1:c.1156= | NM_001387176.1:c.1156C>T |
ATXN2L transcript variant 11 | NM_001387169.1:c.1156= | NM_001387169.1:c.1156C>T |
ATXN2L transcript variant X25 | XM_047433544.1:c.976= | XM_047433544.1:c.976C>T |
ATXN2L transcript variant X26 | XM_047433545.1:c.976= | XM_047433545.1:c.976C>T |
ATXN2L transcript variant 17 | NM_001387175.1:c.1156= | NM_001387175.1:c.1156C>T |
ATXN2L transcript variant 21 | NM_001387179.1:c.1156= | NM_001387179.1:c.1156C>T |
ATXN2L transcript variant 27 | NM_001387185.1:c.1156= | NM_001387185.1:c.1156C>T |
ATXN2L transcript variant X29 | XM_047433549.1:c.976= | XM_047433549.1:c.976C>T |
ATXN2L transcript variant X10 | XM_047433529.1:c.1156= | XM_047433529.1:c.1156C>T |
ATXN2L transcript variant 35 | NM_001387193.1:c.1156= | NM_001387193.1:c.1156C>T |
ATXN2L transcript variant 25 | NM_001387183.1:c.1156= | NM_001387183.1:c.1156C>T |
ATXN2L transcript variant 23 | NM_001387181.1:c.1156= | NM_001387181.1:c.1156C>T |
ATXN2L transcript variant 24 | NM_001387182.1:c.1156= | NM_001387182.1:c.1156C>T |
ATXN2L transcript variant 38 | NM_001387196.1:c.1156= | NM_001387196.1:c.1156C>T |
ATXN2L transcript variant X9 | XM_047433528.1:c.1156= | XM_047433528.1:c.1156C>T |
ATXN2L transcript variant 36 | NM_001387194.1:c.1156= | NM_001387194.1:c.1156C>T |
ATXN2L transcript variant 37 | NM_001387195.1:c.1156= | NM_001387195.1:c.1156C>T |
ATXN2L transcript variant X8 | XM_047433527.1:c.1156= | XM_047433527.1:c.1156C>T |
ATXN2L transcript variant 26 | NM_001387184.1:c.1156= | NM_001387184.1:c.1156C>T |
ATXN2L transcript variant 39 | NM_001387198.1:c.1156= | NM_001387198.1:c.1156C>T |
ATXN2L transcript variant 31 | NM_001387189.1:c.1156= | NM_001387189.1:c.1156C>T |
ATXN2L transcript variant 40 | NM_001387197.1:c.1156= | NM_001387197.1:c.1156C>T |
ATXN2L transcript variant 34 | NM_001387192.1:c.1156= | NM_001387192.1:c.1156C>T |
ATXN2L transcript variant 32 | NM_001387190.1:c.1156= | NM_001387190.1:c.1156C>T |
ATXN2L transcript variant 33 | NM_001387191.1:c.1156= | NM_001387191.1:c.1156C>T |
ATXN2L transcript variant 42 | NM_001387200.1:c.1156= | NM_001387200.1:c.1156C>T |
ATXN2L transcript variant X14 | XM_047433533.1:c.1156= | XM_047433533.1:c.1156C>T |
ATXN2L transcript variant X16 | XM_047433535.1:c.1156= | XM_047433535.1:c.1156C>T |
ATXN2L transcript variant 41 | NM_001387199.1:c.1156= | NM_001387199.1:c.1156C>T |
ATXN2L transcript variant 43 | NM_001387202.1:c.1156= | NM_001387202.1:c.1156C>T |
ATXN2L transcript variant X21 | XM_047433540.1:c.976= | XM_047433540.1:c.976C>T |
ATXN2L transcript variant X22 | XM_047433541.1:c.976= | XM_047433541.1:c.976C>T |
ATXN2L transcript variant X23 | XM_047433542.1:c.976= | XM_047433542.1:c.976C>T |
ATXN2L transcript variant X24 | XM_047433543.1:c.976= | XM_047433543.1:c.976C>T |
ATXN2L transcript variant 45 | NM_001387204.1:c.1156= | NM_001387204.1:c.1156C>T |
ATXN2L transcript variant 19 | NM_001387177.1:c.1156= | NM_001387177.1:c.1156C>T |
ATXN2L transcript variant X27 | XM_047433546.1:c.976= | XM_047433546.1:c.976C>T |
ATXN2L transcript variant X28 | XM_047433548.1:c.976= | XM_047433548.1:c.976C>T |
ataxin-2-like protein isoform X4 | XP_006721075.1:p.His386= | XP_006721075.1:p.His386Tyr |
ataxin-2-like protein isoform 1 | NP_009176.2:p.His386= | NP_009176.2:p.His386Tyr |
ataxin-2-like protein isoform 6 | NP_059867.3:p.His386= | NP_059867.3:p.His386Tyr |
ataxin-2-like protein isoform X1 | XP_011544021.1:p.His386= | XP_011544021.1:p.His386Tyr |
ataxin-2-like protein isoform 3 | NP_680780.1:p.His386= | NP_680780.1:p.His386Tyr |
ataxin-2-like protein isoform 2 | NP_663760.1:p.His386= | NP_663760.1:p.His386Tyr |
ataxin-2-like protein isoform 4 | NP_680781.1:p.His386= | NP_680781.1:p.His386Tyr |
ataxin-2-like protein isoform 5 | NP_680782.1:p.His386= | NP_680782.1:p.His386Tyr |
ataxin-2-like protein isoform X4 | XP_006721074.1:p.His386= | XP_006721074.1:p.His386Tyr |
ataxin-2-like protein isoform X1 | XP_005255119.1:p.His386= | XP_005255119.1:p.His386Tyr |
ataxin-2-like protein isoform 7 | NP_001295159.1:p.His386= | NP_001295159.1:p.His386Tyr |
ataxin-2-like protein isoform X3 | XP_005255131.1:p.His386= | XP_005255131.1:p.His386Tyr |
ataxin-2-like protein isoform 10 | NP_001374100.1:p.His386= | NP_001374100.1:p.His386Tyr |
ataxin-2-like protein isoform 11 | NP_001374101.1:p.His386= | NP_001374101.1:p.His386Tyr |
ataxin-2-like protein isoform 14 | NP_001374107.1:p.His386= | NP_001374107.1:p.His386Tyr |
ataxin-2-like protein isoform 16 | NP_001374109.1:p.His386= | NP_001374109.1:p.His386Tyr |
ataxin-2-like protein isoform X2 | XP_047289482.1:p.His386= | XP_047289482.1:p.His386Tyr |
ataxin-2-like protein isoform 23 | NP_001374116.1:p.His386= | NP_001374116.1:p.His386Tyr |
ataxin-2-like protein isoform 22 | NP_001374115.1:p.His386= | NP_001374115.1:p.His386Tyr |
ataxin-2-like protein isoform 24 | NP_001374117.1:p.His386= | NP_001374117.1:p.His386Tyr |
ataxin-2-like protein isoform X9 | XP_047289490.1:p.His326= | XP_047289490.1:p.His326Tyr |
ataxin-2-like protein isoform 36 | NP_001374132.1:p.Thr330= | NP_001374132.1:p.Thr330= |
ataxin-2-like protein isoform X13 | XP_047289494.1:p.His326= | XP_047289494.1:p.His326Tyr |
ataxin-2-like protein isoform X14 | XP_047289495.1:p.His326= | XP_047289495.1:p.His326Tyr |
ataxin-2-like protein isoform X5 | XP_047289486.1:p.His386= | XP_047289486.1:p.His386Tyr |
ataxin-2-like protein isoform X6 | XP_047289487.1:p.His386= | XP_047289487.1:p.His386Tyr |
ataxin-2-like protein isoform X7 | XP_047289488.1:p.His386= | XP_047289488.1:p.His386Tyr |
ataxin-2-like protein isoform 8 | NP_001374095.1:p.His386= | NP_001374095.1:p.His386Tyr |
ataxin-2-like protein isoform X11 | XP_047289492.1:p.His386= | XP_047289492.1:p.His386Tyr |
ataxin-2-like protein isoform X1 | XP_047289481.1:p.His386= | XP_047289481.1:p.His386Tyr |
ataxin-2-like protein isoform 3 | NP_001374097.1:p.His386= | NP_001374097.1:p.His386Tyr |
ataxin-2-like protein isoform X12 | XP_047289493.1:p.His386= | XP_047289493.1:p.His386Tyr |
ataxin-2-like protein isoform 3 | NP_001374096.1:p.His386= | NP_001374096.1:p.His386Tyr |
ataxin-2-like protein isoform 9 | NP_001374099.1:p.His386= | NP_001374099.1:p.His386Tyr |
ataxin-2-like protein isoform 12 | NP_001374102.1:p.His386= | NP_001374102.1:p.His386Tyr |
ataxin-2-like protein isoform 13 | NP_001374103.1:p.His386= | NP_001374103.1:p.His386Tyr |
ataxin-2-like protein isoform 13 | NP_001374105.1:p.His386= | NP_001374105.1:p.His386Tyr |
ataxin-2-like protein isoform 9 | NP_001374098.1:p.His386= | NP_001374098.1:p.His386Tyr |
ataxin-2-like protein isoform X19 | XP_047289500.1:p.His326= | XP_047289500.1:p.His326Tyr |
ataxin-2-like protein isoform X20 | XP_047289501.1:p.His326= | XP_047289501.1:p.His326Tyr |
ataxin-2-like protein isoform 13 | NP_001374104.1:p.His386= | NP_001374104.1:p.His386Tyr |
ataxin-2-like protein isoform 15 | NP_001374108.1:p.His386= | NP_001374108.1:p.His386Tyr |
ataxin-2-like protein isoform 21 | NP_001374114.1:p.His386= | NP_001374114.1:p.His386Tyr |
ataxin-2-like protein isoform X23 | XP_047289505.1:p.His326= | XP_047289505.1:p.His326Tyr |
ataxin-2-like protein isoform X4 | XP_047289485.1:p.His386= | XP_047289485.1:p.His386Tyr |
ataxin-2-like protein isoform 29 | NP_001374122.1:p.His386= | NP_001374122.1:p.His386Tyr |
ataxin-2-like protein isoform 19 | NP_001374112.1:p.His386= | NP_001374112.1:p.His386Tyr |
ataxin-2-like protein isoform 17 | NP_001374110.1:p.His386= | NP_001374110.1:p.His386Tyr |
ataxin-2-like protein isoform 18 | NP_001374111.1:p.His386= | NP_001374111.1:p.His386Tyr |
ataxin-2-like protein isoform 31 | NP_001374125.1:p.His386= | NP_001374125.1:p.His386Tyr |
ataxin-2-like protein isoform X4 | XP_047289484.1:p.His386= | XP_047289484.1:p.His386Tyr |
ataxin-2-like protein isoform 30 | NP_001374123.1:p.His386= | NP_001374123.1:p.His386Tyr |
ataxin-2-like protein isoform 31 | NP_001374124.1:p.His386= | NP_001374124.1:p.His386Tyr |
ataxin-2-like protein isoform X4 | XP_047289483.1:p.His386= | XP_047289483.1:p.His386Tyr |
ataxin-2-like protein isoform 20 | NP_001374113.1:p.His386= | NP_001374113.1:p.His386Tyr |
ataxin-2-like protein isoform 31 | NP_001374127.1:p.His386= | NP_001374127.1:p.His386Tyr |
ataxin-2-like protein isoform 25 | NP_001374118.1:p.His386= | NP_001374118.1:p.His386Tyr |
ataxin-2-like protein isoform 32 | NP_001374126.1:p.His386= | NP_001374126.1:p.His386Tyr |
ataxin-2-like protein isoform 28 | NP_001374121.1:p.His386= | NP_001374121.1:p.His386Tyr |
ataxin-2-like protein isoform 26 | NP_001374119.1:p.His386= | NP_001374119.1:p.His386Tyr |
ataxin-2-like protein isoform 27 | NP_001374120.1:p.His386= | NP_001374120.1:p.His386Tyr |
ataxin-2-like protein isoform 34 | NP_001374129.1:p.His386= | NP_001374129.1:p.His386Tyr |
ataxin-2-like protein isoform X8 | XP_047289489.1:p.His386= | XP_047289489.1:p.His386Tyr |
ataxin-2-like protein isoform X10 | XP_047289491.1:p.His386= | XP_047289491.1:p.His386Tyr |
ataxin-2-like protein isoform 33 | NP_001374128.1:p.His386= | NP_001374128.1:p.His386Tyr |
ataxin-2-like protein isoform 35 | NP_001374131.1:p.His386= | NP_001374131.1:p.His386Tyr |
ataxin-2-like protein isoform X15 | XP_047289496.1:p.His326= | XP_047289496.1:p.His326Tyr |
ataxin-2-like protein isoform X16 | XP_047289497.1:p.His326= | XP_047289497.1:p.His326Tyr |
ataxin-2-like protein isoform X17 | XP_047289498.1:p.His326= | XP_047289498.1:p.His326Tyr |
ataxin-2-like protein isoform X18 | XP_047289499.1:p.His326= | XP_047289499.1:p.His326Tyr |
ataxin-2-like protein isoform 37 | NP_001374133.1:p.His386= | NP_001374133.1:p.His386Tyr |
ataxin-2-like protein isoform 13 | NP_001374106.1:p.His386= | NP_001374106.1:p.His386Tyr |
ataxin-2-like protein isoform X21 | XP_047289502.1:p.His326= | XP_047289502.1:p.His326Tyr |
ataxin-2-like protein isoform X22 | XP_047289504.1:p.His326= | XP_047289504.1:p.His326Tyr |
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#.
No | Submitter | Submission ID | Date (Build) |
---|---|---|---|
1 | GNOMAD | ss4299264460 | Apr 27, 2021 (155) |
2 | TOPMED | ss5012353674 | Apr 27, 2021 (155) |
3 | gnomAD - Genomes | NC_000016.10 - 28830736 | Apr 27, 2021 (155) |
4 | TopMed | NC_000016.10 - 28830736 | Apr 27, 2021 (155) |
5 | ALFA | NC_000016.10 - 28830736 | 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).
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs1467681661
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
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.
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.