Canonical Allele Identifier: CA2635972760
Gene: VAMP2 HGNC NCBI

Linked Data

gnomAD v4: 17-8159233-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8159233G>A , CM000679.2:g.8159233G>A GRCh38
NC_000017.10:g.8062551G>A , CM000679.1:g.8062551G>A GRCh37
NC_000017.9:g.8003276G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000316509.11:c.*1622C>T MANE Select ENSP00000314214.6:n.*1622C>T
ENST00000316509.10:c.*1622C>T ENSP00000314214.6:n.*1622C>T
ENST00000498285.1:c.334+2240C>T ENSP00000464383.1:n.334+2240C>T
NM_014232.2:c.*1622C>T NP_055047.2:n.*1622C>T
NM_001330125.1:c.*1622C>T NP_001317054.1:n.*1622C>T
NM_014232.3:c.*1622C>T MANE Select NP_055047.2:n.*1622C>T