Canonical Allele Identifier: CA913189077
Gene: DSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 921774
ClinVar RCV Id: RCV001181412
dbSNP Id: rs1986800713
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31070814del , CM000680.2:g.31070814del GRCh38
NC_000018.9:g.28650780del , CM000680.1:g.28650780del GRCh37
NC_000018.8:g.26904778del NCBI36
NG_008208.2:g.36612del , LRG_400:g.36612del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.1733del ENSP00000507826.1:p.Thr578SerfsTer7
ENST00000251081.8:c.2162del ENSP00000251081.6:p.Thr721SerfsTer7
ENST00000280904.11:c.2162del MANE Select ENSP00000280904.6:p.Thr721SerfsTer7
ENST00000648081.1:c.1733del ENSP00000497441.1:p.Thr578SerfsTer7
ENST00000251081.6:c.2162del ENSP00000251081.6:p.Thr721SerfsTer7
ENST00000280904.10:c.2162del ENSP00000280904.6:p.Thr721SerfsTer7
NM_004949.4:c.2162del NP_004940.1:p.Thr721SerfsTer7
NM_024422.4:c.2162del NP_077740.1:p.Thr721SerfsTer7
XM_005258206.3:c.1733del XP_005258263.1:p.Thr578SerfsTer7
XM_005258206.4:c.1733del XP_005258263.1:p.Thr578SerfsTer7
NM_004949.5:c.2162del NP_004940.1:p.Thr721SerfsTer7
NM_024422.6:c.2162del MANE Select NP_077740.1:p.Thr721SerfsTer7
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