Canonical Allele Identifier: CA2635972761
Gene: VAMP2 HGNC NCBI

Linked Data

gnomAD v4: 17-8159233-G-T
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Genomic Alleles

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

Transcript Alleles

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