Canonical Allele Identifier: CA402135376

Gene: DSG2

Linked Data

• gnomAD v4: 18-31524707-A-G
• MyVariant Identifiers: chr18:g.29104670A>G (hg19) ; chr18:g.31524707A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524707A>G , CM000680.2:g.31524707A>G	GRCh38
NC_000018.9:g.29104670A>G , CM000680.1:g.29104670A>G	GRCh37
NC_000018.8:g.27358668A>G	NCBI36
NG_007072.3:g.31466A>G , LRG_397:g.31466A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.664A>G
ENST00000683614.2:n.664A>G
ENST00000682087.1:c.664A>G
ENST00000683614.1:c.664A>G
ENST00000261590.13:c.833A>G MANE Select	ENSP00000261590.8:p.Glu278Gly
ENST00000261590.12:c.833A>G	ENSP00000261590.8:p.Glu278Gly
NM_001943.3:c.833A>G , LRG_397t1:c.833A>G	NP_001934.2:p.Glu278Gly
NM_001943.4:c.833A>G	NP_001934.2:p.Glu278Gly
XM_024451095.1:c.299A>G	XP_024306863.1:p.Glu100Gly
NM_001943.5:c.833A>G MANE Select	NP_001934.2:p.Glu278Gly