Canonical Allele Identifier: CA049461

Gene: DSG2

Linked Data

• ClinVar Variation Id: 928238
• ClinVar RCV Id: RCV001192011 ; RCV002069177 ; RCV003163482
• dbSNP Id: rs748768578
• ExAC: 18:29102104 G / A
• gnomAD v2: 18-29102104-G-A
• gnomAD v3: 18-31522141-G-A
• gnomAD v4: 18-31522141-G-A
• COSMIC: COSM987618
• MyVariant Identifiers: chr18:g.29102104G>A (hg19) ; chr18:g.31522141G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522141G>A , CM000680.2:g.31522141G>A	GRCh38
NC_000018.9:g.29102104G>A , CM000680.1:g.29102104G>A	GRCh37
NC_000018.8:g.27356102G>A	NCBI36
NG_007072.3:g.28900G>A , LRG_397:g.28900G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.413G>A
ENST00000682241.2:c.582G>A	ENSP00000507600.2:p.Ser194=
ENST00000683614.2:n.413G>A
ENST00000682087.1:c.413G>A
ENST00000682241.1:c.413G>A
ENST00000683614.1:c.413G>A
ENST00000683654.1:c.582G>A	ENSP00000506971.1:p.Ser194=
ENST00000684461.1:n.1252G>A
ENST00000261590.13:c.582G>A MANE Select	ENSP00000261590.8:p.Ser194=
ENST00000261590.12:c.582G>A	ENSP00000261590.8:p.Ser194=
ENST00000585206.1:c.582G>A	ENSP00000462503.1:p.Ser194=
NM_001943.3:c.582G>A , LRG_397t1:c.582G>A	NP_001934.2:p.Ser194=
NM_001943.4:c.582G>A	NP_001934.2:p.Ser194=
XM_024451095.1:c.48G>A	XP_024306863.1:p.Ser16=
NM_001943.5:c.582G>A MANE Select	NP_001934.2:p.Ser194=