Canonical Allele Identifier: CA402135367

Gene: DSG2

Linked Data

• MyVariant Identifiers: chr18:g.29104667T>A (hg19) ; chr18:g.31524704T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524704T>A , CM000680.2:g.31524704T>A	GRCh38
NC_000018.9:g.29104667T>A , CM000680.1:g.29104667T>A	GRCh37
NC_000018.8:g.27358665T>A	NCBI36
NG_007072.3:g.31463T>A , LRG_397:g.31463T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.661T>A
ENST00000683614.2:n.661T>A
ENST00000682087.1:c.661T>A
ENST00000683614.1:c.661T>A
ENST00000261590.13:c.830T>A MANE Select	ENSP00000261590.8:p.Leu277His
ENST00000261590.12:c.830T>A	ENSP00000261590.8:p.Leu277His
NM_001943.3:c.830T>A , LRG_397t1:c.830T>A	NP_001934.2:p.Leu277His
NM_001943.4:c.830T>A	NP_001934.2:p.Leu277His
XM_024451095.1:c.296T>A	XP_024306863.1:p.Leu99His
NM_001943.5:c.830T>A MANE Select	NP_001934.2:p.Leu277His