Canonical Allele Identifier: CA2293654968

Gene: DSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089552T= , CM000680.2:g.31089552T=	GRCh38
NC_000018.9:g.28669515T= , CM000680.1:g.28669515T=	GRCh37
NC_000018.8:g.26923513T=	NCBI36
NG_008208.2:g.17874A= , LRG_400:g.17874A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.88A=	ENSP00000507826.1:p.Ile30=
ENST00000251081.8:c.517A=	ENSP00000251081.6:p.Ile173=
ENST00000280904.11:c.517A= MANE Select	ENSP00000280904.6:p.Ile173=
ENST00000648081.1:c.88A=	ENSP00000497441.1:p.Ile30=
ENST00000251081.6:c.517A=	ENSP00000251081.6:p.Ile173=
ENST00000280904.10:c.517A=	ENSP00000280904.6:p.Ile173=
NM_004949.4:c.517A=	NP_004940.1:p.Ile173=
NM_024422.4:c.517A=	NP_077740.1:p.Ile173=
XM_005258206.3:c.88A=	XP_005258263.1:p.Ile30=
XM_005258206.4:c.88A=	XP_005258263.1:p.Ile30=
NM_004949.5:c.517A=	NP_004940.1:p.Ile173=
NM_024422.6:c.517A= MANE Select	NP_077740.1:p.Ile173=