Canonical Allele Identifier: CA51751162
Gene: VAMP8 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.85581859T>G
GRCh37 chr2:g.85808982T>G
gnomAD v2:
2:85808982 T / G
gnomAD v3:
2:85581859 T / G
gnomAD v4:
chr2-85581859-T-G
Joint Max Group AF 0.00529884 (EAS)
Genomes Max Group AF 0.0038605 (EAS)
Exomes Max Group AF 0.00532145 (EAS)
dbSNP:
1010
JSON-LD

Genomic Alleles

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

Transcript Alleles

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