Canonical Allele Identifier: CA038736
Gene: DSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 927709
ClinVar RCV Id: RCV001191174 RCV001876237 RCV004010490
dbSNP Id: rs759910399
ExAC: 18:28669523 T / C
gnomAD v2: 18-28669523-T-C
gnomAD v3: 18-31089560-T-C
gnomAD v4: 18-31089560-T-C
MyVariant Identifiers: chr18:g.28669523T>C (hg19) chr18:g.31089560T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31089560T>C , CM000680.2:g.31089560T>C GRCh38
NC_000018.9:g.28669523T>C , CM000680.1:g.28669523T>C GRCh37
NC_000018.8:g.26923521T>C NCBI36
NG_008208.2:g.17866A>G , LRG_400:g.17866A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.80A>G ENSP00000507826.1:p.Tyr27Cys
ENST00000251081.8:c.509A>G ENSP00000251081.6:p.Tyr170Cys
ENST00000280904.11:c.509A>G MANE Select ENSP00000280904.6:p.Tyr170Cys
ENST00000648081.1:c.80A>G ENSP00000497441.1:p.Tyr27Cys
ENST00000251081.6:c.509A>G ENSP00000251081.6:p.Tyr170Cys
ENST00000280904.10:c.509A>G ENSP00000280904.6:p.Tyr170Cys
NM_004949.4:c.509A>G NP_004940.1:p.Tyr170Cys
NM_024422.4:c.509A>G NP_077740.1:p.Tyr170Cys
XM_005258206.3:c.80A>G XP_005258263.1:p.Tyr27Cys
XM_005258206.4:c.80A>G XP_005258263.1:p.Tyr27Cys
NM_004949.5:c.509A>G NP_004940.1:p.Tyr170Cys
NM_024422.6:c.509A>G MANE Select NP_077740.1:p.Tyr170Cys
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