Canonical Allele Identifier: CA2293646640

Gene: DSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31070728C= , CM000680.2:g.31070728C=	GRCh38
NC_000018.9:g.28650694C= , CM000680.1:g.28650694C=	GRCh37
NC_000018.8:g.26904692C=	NCBI36
NG_008208.2:g.36698G= , LRG_400:g.36698G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1819G=	ENSP00000507826.1:p.Val607=
ENST00000251081.8:c.2248G=	ENSP00000251081.6:p.Val750=
ENST00000280904.11:c.2248G= MANE Select	ENSP00000280904.6:p.Val750=
ENST00000648081.1:c.1819G=	ENSP00000497441.1:p.Val607=
ENST00000251081.6:c.2248G=	ENSP00000251081.6:p.Val750=
ENST00000280904.10:c.2248G=	ENSP00000280904.6:p.Val750=
NM_004949.4:c.2248G=	NP_004940.1:p.Val750=
NM_024422.4:c.2248G=	NP_077740.1:p.Val750=
XM_005258206.3:c.1819G=	XP_005258263.1:p.Val607=
XM_005258206.4:c.1819G=	XP_005258263.1:p.Val607=
NM_004949.5:c.2248G=	NP_004940.1:p.Val750=
NM_024422.6:c.2248G= MANE Select	NP_077740.1:p.Val750=