Canonical Allele Identifier: CA2293645473

Gene: DSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31068145T= , CM000680.2:g.31068145T=	GRCh38
NC_000018.9:g.28648111T= , CM000680.1:g.28648111T=	GRCh37
NC_000018.8:g.26902109T=	NCBI36
NG_008208.2:g.39281A= , LRG_400:g.39281A=

Transcript Alleles

HGVS	Amino-acid Change
NM_024422.6:c.2576A= MANE Select	NP_077740.1:p.Tyr859=
ENST00000280904.11:c.2576A= MANE Select	ENSP00000280904.6:p.Tyr859=
NM_004949.4:c.*78A=	NP_004940.1:n.*78A=
NM_004949.5:c.*78A=	NP_004940.1:n.*78A=
NM_024422.4:c.2576A=	NP_077740.1:p.Tyr859=
ENST00000251081.6:c.*78A=	ENSP00000251081.6:n.*78A=
ENST00000251081.8:c.*78A=	ENSP00000251081.6:n.*78A=
ENST00000280904.10:c.2576A=	ENSP00000280904.6:p.Tyr859=
ENST00000648081.1:c.2147A=	ENSP00000497441.1:p.Tyr716=
ENST00000682357.1:c.2147A=	ENSP00000507826.1:p.Tyr716=
XM_005258206.3:c.2147A=	XP_005258263.1:p.Tyr716=
XM_005258206.4:c.2147A=	XP_005258263.1:p.Tyr716=