Canonical Allele Identifier: CA035480
Gene: DSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468377
dbSNP Id: rs142807209

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31070750T>C , CM000680.2:g.31070750T>C GRCh38
NC_000018.9:g.28650716T>C , CM000680.1:g.28650716T>C GRCh37
NC_000018.8:g.26904714T>C NCBI36
NG_008208.2:g.36676A>G , LRG_400:g.36676A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.1797A>G ENSP00000507826.1:p.Thr599=
ENST00000251081.8:c.2226A>G ENSP00000251081.6:p.Thr742=
ENST00000280904.11:c.2226A>G MANE Select ENSP00000280904.6:p.Thr742=
ENST00000648081.1:c.1797A>G ENSP00000497441.1:p.Thr599=
ENST00000251081.6:c.2226A>G ENSP00000251081.6:p.Thr742=
ENST00000280904.10:c.2226A>G ENSP00000280904.6:p.Thr742=
NM_004949.4:c.2226A>G NP_004940.1:p.Thr742=
NM_024422.4:c.2226A>G NP_077740.1:p.Thr742=
XM_005258206.3:c.1797A>G XP_005258263.1:p.Thr599=
XM_005258206.4:c.1797A>G XP_005258263.1:p.Thr599=
NM_004949.5:c.2226A>G NP_004940.1:p.Thr742=
NM_024422.6:c.2226A>G MANE Select NP_077740.1:p.Thr742=