Canonical Allele Identifier: CA402133395

Gene: DSG2

Linked Data

• MyVariant Identifiers: chr18:g.29102079C>A (hg19) ; chr18:g.31522116C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522116C>A , CM000680.2:g.31522116C>A	GRCh38
NC_000018.9:g.29102079C>A , CM000680.1:g.29102079C>A	GRCh37
NC_000018.8:g.27356077C>A	NCBI36
NG_007072.3:g.28875C>A , LRG_397:g.28875C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.388C>A
ENST00000682241.2:c.557C>A	ENSP00000507600.2:p.Ala186Glu
ENST00000683614.2:n.388C>A
ENST00000682087.1:c.388C>A
ENST00000682241.1:c.388C>A
ENST00000683614.1:c.388C>A
ENST00000683654.1:c.557C>A	ENSP00000506971.1:p.Ala186Glu
ENST00000684461.1:n.1227C>A
ENST00000261590.13:c.557C>A MANE Select	ENSP00000261590.8:p.Ala186Glu
ENST00000261590.12:c.557C>A	ENSP00000261590.8:p.Ala186Glu
ENST00000585206.1:c.557C>A	ENSP00000462503.1:p.Ala186Glu
NM_001943.3:c.557C>A , LRG_397t1:c.557C>A	NP_001934.2:p.Ala186Glu
NM_001943.4:c.557C>A	NP_001934.2:p.Ala186Glu
XM_024451095.1:c.23C>A	XP_024306863.1:p.Ala8Glu
NM_001943.5:c.557C>A MANE Select	NP_001934.2:p.Ala186Glu