Canonical Allele Identifier: CA624722395
Gene: VAMP2 HGNC NCBI

Linked Data

dbSNP Id: rs1401552182
gnomAD v2: 17-8062523-TGGG-T
gnomAD v3: 17-8159205-TGGG-T
gnomAD v4: 17-8159205-TGGG-T
MyVariant Identifiers: chr17:g.8062524_8062526del (hg19) chr17:g.8159206_8159208del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8159208_8159210del , CM000679.2:g.8159208_8159210del GRCh38
NC_000017.10:g.8062526_8062528del , CM000679.1:g.8062526_8062528del GRCh37
NC_000017.9:g.8003251_8003253del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000316509.11:c.*1647_*1649del MANE Select ENSP00000314214.6:n.*1647_*1649del
ENST00000316509.10:c.*1647_*1649del ENSP00000314214.6:n.*1647_*1649del
ENST00000498285.1:c.334+2265_334+2267del ENSP00000464383.1:n.334+2265_334+2267del
NM_014232.2:c.*1647_*1649del NP_055047.2:n.*1647_*1649del
NM_001330125.1:c.*1647_*1649del NP_001317054.1:n.*1647_*1649del
NM_014232.3:c.*1647_*1649del MANE Select NP_055047.2:n.*1647_*1649del
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