Canonical Allele Identifier: CA2293654963
Gene: DSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31089539C= , CM000680.2:g.31089539C= GRCh38
NC_000018.9:g.28669502C= , CM000680.1:g.28669502C= GRCh37
NC_000018.8:g.26923500C= NCBI36
NG_008208.2:g.17887G= , LRG_400:g.17887G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.101G= ENSP00000507826.1:p.Gly34=
ENST00000251081.8:c.530G= ENSP00000251081.6:p.Gly177=
ENST00000280904.11:c.530G= MANE Select ENSP00000280904.6:p.Gly177=
ENST00000648081.1:c.101G= ENSP00000497441.1:p.Gly34=
ENST00000251081.6:c.530G= ENSP00000251081.6:p.Gly177=
ENST00000280904.10:c.530G= ENSP00000280904.6:p.Gly177=
NM_004949.4:c.530G= NP_004940.1:p.Gly177=
NM_024422.4:c.530G= NP_077740.1:p.Gly177=
XM_005258206.3:c.101G= XP_005258263.1:p.Gly34=
XM_005258206.4:c.101G= XP_005258263.1:p.Gly34=
NM_004949.5:c.530G= NP_004940.1:p.Gly177=
NM_024422.6:c.530G= MANE Select NP_077740.1:p.Gly177=