Canonical Allele Identifier: CA2293645487

Gene: DSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31068173C= , CM000680.2:g.31068173C=	GRCh38
NC_000018.9:g.28648139C= , CM000680.1:g.28648139C=	GRCh37
NC_000018.8:g.26902137C=	NCBI36
NG_008208.2:g.39253G= , LRG_400:g.39253G=

Transcript Alleles

HGVS	Amino-acid Change
NM_024422.6:c.2548G= MANE Select	NP_077740.1:p.Ala850=
ENST00000280904.11:c.2548G= MANE Select	ENSP00000280904.6:p.Ala850=
NM_004949.4:c.*50G=	NP_004940.1:n.*50G=
NM_004949.5:c.*50G=	NP_004940.1:n.*50G=
NM_024422.4:c.2548G=	NP_077740.1:p.Ala850=
ENST00000251081.6:c.*50G=	ENSP00000251081.6:n.*50G=
ENST00000251081.8:c.*50G=	ENSP00000251081.6:n.*50G=
ENST00000280904.10:c.2548G=	ENSP00000280904.6:p.Ala850=
ENST00000648081.1:c.2119G=	ENSP00000497441.1:p.Ala707=
ENST00000682357.1:c.2119G=	ENSP00000507826.1:p.Ala707=
XM_005258206.3:c.2119G=	XP_005258263.1:p.Ala707=
XM_005258206.4:c.2119G=	XP_005258263.1:p.Ala707=