Canonical Allele Identifier: CA2293654934
Gene: DSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31089467A= , CM000680.2:g.31089467A= GRCh38
NC_000018.9:g.28669430A= , CM000680.1:g.28669430A= GRCh37
NC_000018.8:g.26923428A= NCBI36
NG_008208.2:g.17959T= , LRG_400:g.17959T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.173T= ENSP00000507826.1:p.Val58=
ENST00000251081.8:c.602T= ENSP00000251081.6:p.Val201=
ENST00000280904.11:c.602T= MANE Select ENSP00000280904.6:p.Val201=
ENST00000648081.1:c.173T= ENSP00000497441.1:p.Val58=
ENST00000251081.6:c.602T= ENSP00000251081.6:p.Val201=
ENST00000280904.10:c.602T= ENSP00000280904.6:p.Val201=
NM_004949.4:c.602T= NP_004940.1:p.Val201=
NM_024422.4:c.602T= NP_077740.1:p.Val201=
XM_005258206.3:c.173T= XP_005258263.1:p.Val58=
XM_005258206.4:c.173T= XP_005258263.1:p.Val58=
NM_004949.5:c.602T= NP_004940.1:p.Val201=
NM_024422.6:c.602T= MANE Select NP_077740.1:p.Val201=