Canonical Allele Identifier: CA402135381

Gene: DSG2

Linked Data

• MyVariant Identifiers: chr18:g.29104672G>A (hg19) ; chr18:g.31524709G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524709G>A , CM000680.2:g.31524709G>A	GRCh38
NC_000018.9:g.29104672G>A , CM000680.1:g.29104672G>A	GRCh37
NC_000018.8:g.27358670G>A	NCBI36
NG_007072.3:g.31468G>A , LRG_397:g.31468G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.666G>A
ENST00000683614.2:n.666G>A
ENST00000682087.1:c.666G>A
ENST00000683614.1:c.666G>A
ENST00000261590.13:c.835G>A MANE Select	ENSP00000261590.8:p.Gly279Arg
ENST00000261590.12:c.835G>A	ENSP00000261590.8:p.Gly279Arg
NM_001943.3:c.835G>A , LRG_397t1:c.835G>A	NP_001934.2:p.Gly279Arg
NM_001943.4:c.835G>A	NP_001934.2:p.Gly279Arg
XM_024451095.1:c.301G>A	XP_024306863.1:p.Gly101Arg
NM_001943.5:c.835G>A MANE Select	NP_001934.2:p.Gly279Arg