Canonical Allele Identifier: CA287514017
Gene: VAMP2 HGNC NCBI

Linked Data

dbSNP Id: rs570664595
gnomAD v2: 17-8062534-G-A
gnomAD v3: 17-8159216-G-A
gnomAD v4: 17-8159216-G-A
MyVariant Identifiers: chr17:g.8062534G>A (hg19) chr17:g.8159216G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8159216G>A , CM000679.2:g.8159216G>A GRCh38
NC_000017.10:g.8062534G>A , CM000679.1:g.8062534G>A GRCh37
NC_000017.9:g.8003259G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000316509.11:c.*1639C>T MANE Select ENSP00000314214.6:n.*1639C>T
ENST00000316509.10:c.*1639C>T ENSP00000314214.6:n.*1639C>T
ENST00000498285.1:c.334+2257C>T ENSP00000464383.1:n.334+2257C>T
NM_014232.2:c.*1639C>T NP_055047.2:n.*1639C>T
NM_001330125.1:c.*1639C>T NP_001317054.1:n.*1639C>T
NM_014232.3:c.*1639C>T MANE Select NP_055047.2:n.*1639C>T
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