Canonical Allele Identifier: CA981235191

Gene: VAMP2

Linked Data

• gnomAD v3: 17-8159235-A-AGGGGGGGGGGGAGGGGGGGGGCG
• gnomAD v4: 17-8159235-A-AGGGGGGGGGGGAGGGGGGGGGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8159239_8159240insGGGGGGGAGGGGGGGGGCGGGGG , CM000679.2:g.8159239_8159240insGGGGGGGAGGGGGGGGGCGGGGG	GRCh38
NC_000017.10:g.8062557_8062558insGGGGGGGAGGGGGGGGGCGGGGG , CM000679.1:g.8062557_8062558insGGGGGGGAGGGGGGGGGCGGGGG	GRCh37
NC_000017.9:g.8003282_8003283insGGGGGGGAGGGGGGGGGCGGGGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316509.11:c.*1619_*1620insCGCCCCCCCCCTCCCCCCCCCCC MANE Select	ENSP00000314214.6:n.*1619_*1620insCGCCCCCCCCCTCCCCCCCCCCC
ENST00000316509.10:c.*1619_*1620insCGCCCCCCCCCTCCCCCCCCCCC	ENSP00000314214.6:n.*1619_*1620insCGCCCCCCCCCTCCCCCCCCCCC
ENST00000498285.1:c.334+2237_334+2238insCGCCCCCCCCCTCCCCCCCCCCC	ENSP00000464383.1:n.334+2237_334+2238insCGCCCCCCCCCTCCCCCCCCC...
NM_014232.2:c.*1619_*1620insCGCCCCCCCCCTCCCCCCCCCCC	NP_055047.2:n.*1619_*1620insCGCCCCCCCCCTCCCCCCCCCCC
NM_001330125.1:c.*1619_*1620insCGCCCCCCCCCTCCCCCCCCCCC	NP_001317054.1:n.*1619_*1620insCGCCCCCCCCCTCCCCCCCCCCC
NM_014232.3:c.*1619_*1620insCGCCCCCCCCCTCCCCCCCCCCC MANE Select	NP_055047.2:n.*1619_*1620insCGCCCCCCCCCTCCCCCCCCCCC