Canonical Allele Identifier: CA2293654942
Gene: DSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31089482T= , CM000680.2:g.31089482T= GRCh38
NC_000018.9:g.28669445T= , CM000680.1:g.28669445T= GRCh37
NC_000018.8:g.26923443T= NCBI36
NG_008208.2:g.17944A= , LRG_400:g.17944A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.158A= ENSP00000507826.1:p.Tyr53=
ENST00000251081.8:c.587A= ENSP00000251081.6:p.Tyr196=
ENST00000280904.11:c.587A= MANE Select ENSP00000280904.6:p.Tyr196=
ENST00000648081.1:c.158A= ENSP00000497441.1:p.Tyr53=
ENST00000251081.6:c.587A= ENSP00000251081.6:p.Tyr196=
ENST00000280904.10:c.587A= ENSP00000280904.6:p.Tyr196=
NM_004949.4:c.587A= NP_004940.1:p.Tyr196=
NM_024422.4:c.587A= NP_077740.1:p.Tyr196=
XM_005258206.3:c.158A= XP_005258263.1:p.Tyr53=
XM_005258206.4:c.158A= XP_005258263.1:p.Tyr53=
NM_004949.5:c.587A= NP_004940.1:p.Tyr196=
NM_024422.6:c.587A= MANE Select NP_077740.1:p.Tyr196=