Canonical Allele Identifier: CA021393

Gene: DSG2

Linked Data

• ClinVar Variation Id: 16810
• ClinVar RCV Id: RCV002254518
• dbSNP Id: rs121913006
• ExAC: 18:29099830 G / A
• gnomAD v2: 18-29099830-G-A
• gnomAD v4: 18-31519867-G-A
• MyVariant Identifiers: chr18:g.29099830G>A (hg19) ; chr18:g.31519867G>A (hg38)
• PubMed: PMID:16773573 ; PMID:19151369 ; PMID:19863551 ; PMID:20031617 ; PMID:20152563 ; PMID:20400443 ; PMID:20857253 ; PMID:23671136 ; PMID:25820315 ; PMID:28283360

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31519867G>A , CM000680.2:g.31519867G>A	GRCh38
NC_000018.9:g.29099830G>A , CM000680.1:g.29099830G>A	GRCh37
NC_000018.8:g.27353828G>A	NCBI36
NG_007072.3:g.26626G>A , LRG_397:g.26626G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682241.2:c.146G>A	ENSP00000507600.2:p.Arg49His
ENST00000683654.1:c.146G>A	ENSP00000506971.1:p.Arg49His
ENST00000261590.13:c.146G>A MANE Select	ENSP00000261590.8:p.Arg49His
ENST00000261590.12:c.146G>A	ENSP00000261590.8:p.Arg49His
ENST00000585206.1:c.146G>A	ENSP00000462503.1:p.Arg49His
NM_001943.3:c.146G>A , LRG_397t1:c.146G>A	NP_001934.2:p.Arg49His
NM_001943.4:c.146G>A	NP_001934.2:p.Arg49His
XM_024451095.1:c.-389G>A	XP_024306863.1:n.-389G>A
NM_001943.5:c.146G>A MANE Select	NP_001934.2:p.Arg49His