Canonical Allele Identifier: CA021364

Gene: DSG2

Linked Data

• ClinVar Variation Id: 16812
• ClinVar RCV Id: RCV001798008 ; RCV002381255 ; RCV002482885
• dbSNP Id: rs121913008
• gnomAD v2: 18-29099821-G-A
• gnomAD v3: 18-31519858-G-A
• gnomAD v4: 18-31519858-G-A
• MyVariant Identifiers: chr18:g.29099821G>A (hg19) ; chr18:g.31519858G>A (hg38)
• PubMed: PMID:16773573 ; PMID:20031616 ; PMID:20031617 ; PMID:20400443 ; PMID:20857253 ; PMID:21606390 ; PMID:21606396 ; PMID:23071725 ; PMID:23381804

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31519858G>A , CM000680.2:g.31519858G>A	GRCh38
NC_000018.9:g.29099821G>A , CM000680.1:g.29099821G>A	GRCh37
NC_000018.8:g.27353819G>A	NCBI36
NG_007072.3:g.26617G>A , LRG_397:g.26617G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682241.2:c.137G>A	ENSP00000507600.2:p.Arg46Gln
ENST00000683654.1:c.137G>A	ENSP00000506971.1:p.Arg46Gln
ENST00000261590.13:c.137G>A MANE Select	ENSP00000261590.8:p.Arg46Gln
ENST00000261590.12:c.137G>A	ENSP00000261590.8:p.Arg46Gln
ENST00000585206.1:c.137G>A	ENSP00000462503.1:p.Arg46Gln
NM_001943.3:c.137G>A , LRG_397t1:c.137G>A	NP_001934.2:p.Arg46Gln
NM_001943.4:c.137G>A	NP_001934.2:p.Arg46Gln
XM_024451095.1:c.-398G>A	XP_024306863.1:n.-398G>A
NM_001943.5:c.137G>A MANE Select	NP_001934.2:p.Arg46Gln