Canonical Allele Identifier: CA402112312
Gene: DSC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31070737C>A , CM000680.2:g.31070737C>A GRCh38
NC_000018.9:g.28650703C>A , CM000680.1:g.28650703C>A GRCh37
NC_000018.8:g.26904701C>A NCBI36
NG_008208.2:g.36689G>T , LRG_400:g.36689G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.1810G>T ENSP00000507826.1:p.Asp604Tyr
ENST00000251081.8:c.2239G>T ENSP00000251081.6:p.Asp747Tyr
ENST00000280904.11:c.2239G>T MANE Select ENSP00000280904.6:p.Asp747Tyr
ENST00000648081.1:c.1810G>T ENSP00000497441.1:p.Asp604Tyr
ENST00000251081.6:c.2239G>T ENSP00000251081.6:p.Asp747Tyr
ENST00000280904.10:c.2239G>T ENSP00000280904.6:p.Asp747Tyr
NM_004949.4:c.2239G>T NP_004940.1:p.Asp747Tyr
NM_024422.4:c.2239G>T NP_077740.1:p.Asp747Tyr
XM_005258206.3:c.1810G>T XP_005258263.1:p.Asp604Tyr
XM_005258206.4:c.1810G>T XP_005258263.1:p.Asp604Tyr
NM_004949.5:c.2239G>T NP_004940.1:p.Asp747Tyr
NM_024422.6:c.2239G>T MANE Select NP_077740.1:p.Asp747Tyr