Canonical Allele Identifier: CA8928345

Gene: DSG2

Linked Data

• dbSNP Id: rs750612113
• ExAC: 18:29104533 A / ATT
• gnomAD v2: 18-29104533-A-ATT
• gnomAD v3: 18-31524570-A-ATT
• gnomAD v4: 18-31524570-A-ATT
• MyVariant Identifiers: chr18:g.29104533_29104534insTT (hg19) ; chr18:g.31524570_31524571insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524570_31524571insTT , CM000680.2:g.31524570_31524571insTT	GRCh38
NC_000018.9:g.29104533_29104534insTT , CM000680.1:g.29104533_29104534insTT	GRCh37
NC_000018.8:g.27358531_27358532insTT	NCBI36
NG_007072.3:g.31329_31330insTT , LRG_397:g.31329_31330insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.644_645insTT
ENST00000683614.2:n.644_645insTT
ENST00000682087.1:c.644_645insTT
ENST00000683614.1:c.644_645insTT
ENST00000261590.13:c.813_814insTT MANE Select	ENSP00000261590.8:p.Val272LeufsTer2
ENST00000261590.12:c.813_814insTT	ENSP00000261590.8:p.Val272LeufsTer2
NM_001943.3:c.813_814insTT , LRG_397t1:c.813_814insTT	NP_001934.2:p.Val272LeufsTer2
NM_001943.4:c.813_814insTT	NP_001934.2:p.Val272LeufsTer2
XM_024451095.1:c.279_280insTT	XP_024306863.1:p.Val94LeufsTer2
NM_001943.5:c.813_814insTT MANE Select	NP_001934.2:p.Val272LeufsTer2