Canonical Allele Identifier: CA10651483
Gene: DSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 326365
ClinVar RCV Id: RCV000293072
dbSNP Id: rs886053684

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31066571T>C , CM000680.2:g.31066571T>C GRCh38
NC_000018.9:g.28646537T>C , CM000680.1:g.28646537T>C GRCh37
NC_000018.8:g.26900535T>C NCBI36
NG_008208.2:g.40855A>G , LRG_400:g.40855A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.*1444A>G ENSP00000507826.1:n.*1444A>G
ENST00000251081.8:c.*1652A>G ENSP00000251081.6:n.*1652A>G
ENST00000280904.11:c.*1444A>G MANE Select ENSP00000280904.6:n.*1444A>G
ENST00000648081.1:c.*1444A>G ENSP00000497441.1:n.*1444A>G
ENST00000251081.6:c.*1652A>G ENSP00000251081.6:n.*1652A>G
ENST00000280904.10:c.*1444A>G ENSP00000280904.6:n.*1444A>G
NM_004949.4:c.*1652A>G NP_004940.1:n.*1652A>G
NM_024422.4:c.*1444A>G NP_077740.1:n.*1444A>G
XM_005258206.3:c.*1444A>G XP_005258263.1:n.*1444A>G
XM_005258206.4:c.*1444A>G XP_005258263.1:n.*1444A>G
NM_004949.5:c.*1652A>G NP_004940.1:n.*1652A>G
NM_024422.6:c.*1444A>G MANE Select NP_077740.1:n.*1444A>G