Canonical Allele Identifier: CA11156780
Gene: VAMP8 HGNC NCBI
COSMIC:
COSN8868361 (not active)
COSN19665376 (not active)
MyVariant.info:
GRCh38 chr2:g.85581859T>C
GRCh37 chr2:g.85808982T>C
gnomAD v2:
2:85808982 T / C
gnomAD v3:
2:85581859 T / C
gnomAD v4:
chr2-85581859-T-C
Joint Max Group AF 0.5532105 (AFR)
Genomes Max Group AF 0.55673148 (AFR)
Exomes Max Group AF 0.54132777 (AFR)
ClinVar RCV:
RCV001539917
ClinVar Variation:
1182311
dbSNP:
1010
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85581859T>C , CM000664.2:g.85581859T>C GRCh38
NC_000002.11:g.85808982T>C , CM000664.1:g.85808982T>C GRCh37
NC_000002.10:g.85662493T>C NCBI36
NG_022887.1:g.9369T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263864.10:c.*143T>C MANE Select ENSP00000263864.5:n.*143T>C
ENST00000263864.9:c.*143T>C ENSP00000263864.5:n.*143T>C
ENST00000409760.1:c.*279T>C ENSP00000387094.1:n.*279T>C
ENST00000432071.1:c.*143T>C ENSP00000407984.1:n.*143T>C
NM_003761.4:c.*143T>C NP_003752.2:n.*143T>C
XM_017005170.1:c.*279T>C XP_016860659.1:n.*279T>C
NM_003761.5:c.*143T>C MANE Select NP_003752.2:n.*143T>C
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