Canonical Allele Identifier: CA022282

Gene: DSG2

Linked Data

• ClinVar Variation Id: 191628
• ClinVar RCV Id: RCV000171899 ; RCV001804903
• dbSNP Id: rs201005720
• ExAC: 18:29104678 G / A
• gnomAD v2: 18-29104678-G-A
• gnomAD v3: 18-31524715-G-A
• gnomAD v4: 18-31524715-G-A
• MyVariant Identifiers: chr18:g.29104678G>A (hg19) ; chr18:g.31524715G>A (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524715G>A , CM000680.2:g.31524715G>A	GRCh38
NC_000018.9:g.29104678G>A , CM000680.1:g.29104678G>A	GRCh37
NC_000018.8:g.27358676G>A	NCBI36
NG_007072.3:g.31474G>A , LRG_397:g.31474G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.672G>A
ENST00000683614.2:n.672G>A
ENST00000682087.1:c.672G>A
ENST00000683614.1:c.672G>A
ENST00000261590.13:c.841G>A MANE Select	ENSP00000261590.8:p.Val281Ile
ENST00000261590.12:c.841G>A	ENSP00000261590.8:p.Val281Ile
NM_001943.3:c.841G>A , LRG_397t1:c.841G>A	NP_001934.2:p.Val281Ile
NM_001943.4:c.841G>A	NP_001934.2:p.Val281Ile
XM_024451095.1:c.307G>A	XP_024306863.1:p.Val103Ile
NM_001943.5:c.841G>A MANE Select	NP_001934.2:p.Val281Ile