Canonical Allele Identifier: CA503599247

Gene: DSG2

Linked Data

• MyVariant Identifiers: chr18:g.29104686A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524723A>G , CM000680.2:g.31524723A>G	GRCh38
NC_000018.9:g.29104686A>G , CM000680.1:g.29104686A>G	GRCh37
NC_000018.8:g.27358684A>G	NCBI36
NG_007072.3:g.31482A>G , LRG_397:g.31482A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.680A>G
ENST00000683614.2:n.680A>G
ENST00000682087.1:c.680A>G
ENST00000683614.1:c.680A>G
ENST00000261590.13:c.849A>G MANE Select	ENSP00000261590.8:p.Glu283=
ENST00000261590.12:c.849A>G	ENSP00000261590.8:p.Glu283=
NM_001943.3:c.849A>G , LRG_397t1:c.849A>G	NP_001934.2:p.Glu283=
NM_001943.4:c.849A>G	NP_001934.2:p.Glu283=
XM_024451095.1:c.315A>G	XP_024306863.1:p.Glu105=
NM_001943.5:c.849A>G MANE Select	NP_001934.2:p.Glu283=