Canonical Allele Identifier: CA402135320

Gene: DSG2

Linked Data

• MyVariant Identifiers: chr18:g.29104547T>A (hg19) ; chr18:g.31524584T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524584T>A , CM000680.2:g.31524584T>A	GRCh38
NC_000018.9:g.29104547T>A , CM000680.1:g.29104547T>A	GRCh37
NC_000018.8:g.27358545T>A	NCBI36
NG_007072.3:g.31343T>A , LRG_397:g.31343T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.658T>A
ENST00000683614.2:n.658T>A
ENST00000682087.1:c.658T>A
ENST00000683614.1:c.658T>A
ENST00000261590.13:c.827T>A MANE Select	ENSP00000261590.8:p.Val276Glu
ENST00000261590.12:c.827T>A	ENSP00000261590.8:p.Val276Glu
NM_001943.3:c.827T>A , LRG_397t1:c.827T>A	NP_001934.2:p.Val276Glu
NM_001943.4:c.827T>A	NP_001934.2:p.Val276Glu
XM_024451095.1:c.293T>A	XP_024306863.1:p.Val98Glu
NM_001943.5:c.827T>A MANE Select	NP_001934.2:p.Val276Glu