Canonical Allele Identifier: CA624722410
Gene: VAMP2 HGNC NCBI

Linked Data

dbSNP Id: rs1255984736
gnomAD v2: 17-8062572-T-TG
gnomAD v3: 17-8159254-T-TG
gnomAD v4: 17-8159254-T-TG
MyVariant Identifiers: chr17:g.8062572_8062573insG (hg19) chr17:g.8159254_8159255insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8159260dup , CM000679.2:g.8159260dup GRCh38
NC_000017.10:g.8062578dup , CM000679.1:g.8062578dup GRCh37
NC_000017.9:g.8003303dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000316509.11:c.*1600dup MANE Select ENSP00000314214.6:n.*1600dup
ENST00000316509.10:c.*1600dup ENSP00000314214.6:n.*1600dup
ENST00000498285.1:c.334+2218dup ENSP00000464383.1:n.334+2218dup
NM_014232.2:c.*1600dup NP_055047.2:n.*1600dup
NM_001330125.1:c.*1600dup NP_001317054.1:n.*1600dup
NM_014232.3:c.*1600dup MANE Select NP_055047.2:n.*1600dup
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