Canonical Allele Identifier: CA2246164879
Gene: VAMP2 HGNC NCBI

Linked Data

dbSNP Id: rs1983213355
gnomAD v4: 17-8159190-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8159190G>T , CM000679.2:g.8159190G>T GRCh38
NC_000017.10:g.8062508G>T , CM000679.1:g.8062508G>T GRCh37
NC_000017.9:g.8003233G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000316509.11:c.*1665C>A MANE Select ENSP00000314214.6:n.*1665C>A
ENST00000316509.10:c.*1665C>A ENSP00000314214.6:n.*1665C>A
ENST00000498285.1:c.334+2283C>A ENSP00000464383.1:n.334+2283C>A
NM_014232.2:c.*1665C>A NP_055047.2:n.*1665C>A
NM_001330125.1:c.*1665C>A NP_001317054.1:n.*1665C>A
NM_014232.3:c.*1665C>A MANE Select NP_055047.2:n.*1665C>A
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