Canonical Allele Identifier: CA2246164948
Gene: VAMP2 HGNC NCBI

Linked Data

dbSNP Id: rs1983216208
gnomAD v4: 17-8159248-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8159248A>T , CM000679.2:g.8159248A>T GRCh38
NC_000017.10:g.8062566A>T , CM000679.1:g.8062566A>T GRCh37
NC_000017.9:g.8003291A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000316509.11:c.*1607T>A MANE Select ENSP00000314214.6:n.*1607T>A
ENST00000316509.10:c.*1607T>A ENSP00000314214.6:n.*1607T>A
ENST00000498285.1:c.334+2225T>A ENSP00000464383.1:n.334+2225T>A
NM_014232.2:c.*1607T>A NP_055047.2:n.*1607T>A
NM_001330125.1:c.*1607T>A NP_001317054.1:n.*1607T>A
NM_014232.3:c.*1607T>A MANE Select NP_055047.2:n.*1607T>A
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