Canonical Allele Identifier: CA2293652168

Gene: DSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31082974A= , CM000680.2:g.31082974A=	GRCh38
NC_000018.9:g.28662940A= , CM000680.1:g.28662940A=	GRCh37
NC_000018.8:g.26916938A=	NCBI36
NG_008208.2:g.24452T= , LRG_400:g.24452T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.600T=	ENSP00000507826.1:p.Ile200=
ENST00000251081.8:c.1029T=	ENSP00000251081.6:p.Ile343=
ENST00000280904.11:c.1029T= MANE Select	ENSP00000280904.6:p.Ile343=
ENST00000648081.1:c.600T=	ENSP00000497441.1:p.Ile200=
ENST00000251081.6:c.1029T=	ENSP00000251081.6:p.Ile343=
ENST00000280904.10:c.1029T=	ENSP00000280904.6:p.Ile343=
NM_004949.4:c.1029T=	NP_004940.1:p.Ile343=
NM_024422.4:c.1029T=	NP_077740.1:p.Ile343=
XM_005258206.3:c.600T=	XP_005258263.1:p.Ile200=
XM_005258206.4:c.600T=	XP_005258263.1:p.Ile200=
NM_004949.5:c.1029T=	NP_004940.1:p.Ile343=
NM_024422.6:c.1029T= MANE Select	NP_077740.1:p.Ile343=