Canonical Allele Identifier: CA402133639

Gene: DSG2

Linked Data

• MyVariant Identifiers: chr18:g.29102118G>T (hg19) ; chr18:g.31522155G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522155G>T , CM000680.2:g.31522155G>T	GRCh38
NC_000018.9:g.29102118G>T , CM000680.1:g.29102118G>T	GRCh37
NC_000018.8:g.27356116G>T	NCBI36
NG_007072.3:g.28914G>T , LRG_397:g.28914G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.427G>T
ENST00000682241.2:c.596G>T	ENSP00000507600.2:p.Arg199Ile
ENST00000683614.2:n.427G>T
ENST00000682087.1:c.427G>T
ENST00000682241.1:c.427G>T
ENST00000683614.1:c.427G>T
ENST00000683654.1:c.596G>T	ENSP00000506971.1:p.Arg199Ile
ENST00000684461.1:n.1266G>T
ENST00000261590.13:c.596G>T MANE Select	ENSP00000261590.8:p.Arg199Ile
ENST00000261590.12:c.596G>T	ENSP00000261590.8:p.Arg199Ile
ENST00000585206.1:c.596G>T	ENSP00000462503.1:p.Arg199Ile
NM_001943.3:c.596G>T , LRG_397t1:c.596G>T	NP_001934.2:p.Arg199Ile
NM_001943.4:c.596G>T	NP_001934.2:p.Arg199Ile
XM_024451095.1:c.62G>T	XP_024306863.1:p.Arg21Ile
NM_001943.5:c.596G>T MANE Select	NP_001934.2:p.Arg199Ile