Canonical Allele Identifier: CA402135243

Gene: DSG2

Linked Data

• ClinVar Variation Id: 2775214
• ClinVar RCV Id: RCV003533629
• gnomAD v4: 18-31524565-C-A
• MyVariant Identifiers: chr18:g.29104528C>A (hg19) ; chr18:g.31524565C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524565C>A , CM000680.2:g.31524565C>A	GRCh38
NC_000018.9:g.29104528C>A , CM000680.1:g.29104528C>A	GRCh37
NC_000018.8:g.27358526C>A	NCBI36
NG_007072.3:g.31324C>A , LRG_397:g.31324C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.639C>A
ENST00000683614.2:n.639C>A
ENST00000682087.1:c.639C>A
ENST00000683614.1:c.639C>A
ENST00000261590.13:c.808C>A MANE Select	ENSP00000261590.8:p.Pro270Thr
ENST00000261590.12:c.808C>A	ENSP00000261590.8:p.Pro270Thr
NM_001943.3:c.808C>A , LRG_397t1:c.808C>A	NP_001934.2:p.Pro270Thr
NM_001943.4:c.808C>A	NP_001934.2:p.Pro270Thr
XM_024451095.1:c.274C>A	XP_024306863.1:p.Pro92Thr
NM_001943.5:c.808C>A MANE Select	NP_001934.2:p.Pro270Thr