Canonical Allele Identifier: CA2293654933
Gene: DSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31089465C= , CM000680.2:g.31089465C= GRCh38
NC_000018.9:g.28669428C= , CM000680.1:g.28669428C= GRCh37
NC_000018.8:g.26923426C= NCBI36
NG_008208.2:g.17961G= , LRG_400:g.17961G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.175G= ENSP00000507826.1:p.Asp59=
ENST00000251081.8:c.604G= ENSP00000251081.6:p.Asp202=
ENST00000280904.11:c.604G= MANE Select ENSP00000280904.6:p.Asp202=
ENST00000648081.1:c.175G= ENSP00000497441.1:p.Asp59=
ENST00000251081.6:c.604G= ENSP00000251081.6:p.Asp202=
ENST00000280904.10:c.604G= ENSP00000280904.6:p.Asp202=
NM_004949.4:c.604G= NP_004940.1:p.Asp202=
NM_024422.4:c.604G= NP_077740.1:p.Asp202=
XM_005258206.3:c.175G= XP_005258263.1:p.Asp59=
XM_005258206.4:c.175G= XP_005258263.1:p.Asp59=
NM_004949.5:c.604G= NP_004940.1:p.Asp202=
NM_024422.6:c.604G= MANE Select NP_077740.1:p.Asp202=