Canonical Allele Identifier: CA2293660561

Gene: DSC2 DSCAS

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31101968C= , CM000680.2:g.31101968C=	GRCh38
NC_000018.9:g.28681931C= , CM000680.1:g.28681931C=	GRCh37
NC_000018.8:g.26935929C=	NCBI36
NG_008208.2:g.5458G= , LRG_400:g.5458G=

Transcript Alleles

HGVS	Amino-acid Change
NM_024422.6:c.4G= (DSC2) MANE Select	NP_077740.1:p.Glu2=
ENST00000280904.11:c.4G= (DSC2) MANE Select	ENSP00000280904.6:p.Glu2=
NM_004949.4:c.4G= (DSC2)	NP_004940.1:p.Glu2=
NM_004949.5:c.4G= (DSC2)	NP_004940.1:p.Glu2=
NM_024422.4:c.4G= (DSC2)	NP_077740.1:p.Glu2=
NR_110785.1:n.136+245C= (DSCAS)
ENST00000251081.6:c.4G= (DSC2)	ENSP00000251081.6:p.Glu2=
ENST00000251081.8:c.4G= (DSC2)	ENSP00000251081.6:p.Glu2=
ENST00000280904.10:c.4G= (DSC2)	ENSP00000280904.6:p.Glu2=
ENST00000648081.1:c.-398+468G= (DSC2)	ENSP00000497441.1:n.-398+468G=
ENST00000682357.1:c.-361+468G= (DSC2)	ENSP00000507826.1:n.-361+468G=