Canonical Allele Identifier: CA402112566
Gene: DSC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.28650804G>C (hg19) chr18:g.31070838G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31070838G>C , CM000680.2:g.31070838G>C GRCh38
NC_000018.9:g.28650804G>C , CM000680.1:g.28650804G>C GRCh37
NC_000018.8:g.26904802G>C NCBI36
NG_008208.2:g.36588C>G , LRG_400:g.36588C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.1709C>G ENSP00000507826.1:p.Thr570Arg
ENST00000251081.8:c.2138C>G ENSP00000251081.6:p.Thr713Arg
ENST00000280904.11:c.2138C>G MANE Select ENSP00000280904.6:p.Thr713Arg
ENST00000648081.1:c.1709C>G ENSP00000497441.1:p.Thr570Arg
ENST00000251081.6:c.2138C>G ENSP00000251081.6:p.Thr713Arg
ENST00000280904.10:c.2138C>G ENSP00000280904.6:p.Thr713Arg
NM_004949.4:c.2138C>G NP_004940.1:p.Thr713Arg
NM_024422.4:c.2138C>G NP_077740.1:p.Thr713Arg
XM_005258206.3:c.1709C>G XP_005258263.1:p.Thr570Arg
XM_005258206.4:c.1709C>G XP_005258263.1:p.Thr570Arg
NM_004949.5:c.2138C>G NP_004940.1:p.Thr713Arg
NM_024422.6:c.2138C>G MANE Select NP_077740.1:p.Thr713Arg
Search 100 bp 5'
Search 100 bp 3'