Canonical Allele Identifier: CA402133768

Gene: DSG2

Linked Data

• MyVariant Identifiers: chr18:g.29102145C>A (hg19) ; chr18:g.31522182C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522182C>A , CM000680.2:g.31522182C>A	GRCh38
NC_000018.9:g.29102145C>A , CM000680.1:g.29102145C>A	GRCh37
NC_000018.8:g.27356143C>A	NCBI36
NG_007072.3:g.28941C>A , LRG_397:g.28941C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.454C>A
ENST00000682241.2:c.623C>A	ENSP00000507600.2:p.Pro208His
ENST00000683614.2:n.454C>A
ENST00000682087.1:c.454C>A
ENST00000682241.1:c.454C>A
ENST00000683614.1:c.454C>A
ENST00000683654.1:c.623C>A	ENSP00000506971.1:p.Pro208His
ENST00000684461.1:n.1293C>A
ENST00000261590.13:c.623C>A MANE Select	ENSP00000261590.8:p.Pro208His
ENST00000261590.12:c.623C>A	ENSP00000261590.8:p.Pro208His
ENST00000585206.1:c.623C>A	ENSP00000462503.1:p.Pro208His
NM_001943.3:c.623C>A , LRG_397t1:c.623C>A	NP_001934.2:p.Pro208His
NM_001943.4:c.623C>A	NP_001934.2:p.Pro208His
XM_024451095.1:c.89C>A	XP_024306863.1:p.Pro30His
NM_001943.5:c.623C>A MANE Select	NP_001934.2:p.Pro208His