Canonical Allele Identifier: CA402112353
Gene: DSC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31070747T>A , CM000680.2:g.31070747T>A GRCh38
NC_000018.9:g.28650713T>A , CM000680.1:g.28650713T>A GRCh37
NC_000018.8:g.26904711T>A NCBI36
NG_008208.2:g.36679A>T , LRG_400:g.36679A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.1800A>T ENSP00000507826.1:p.Glu600Asp
ENST00000251081.8:c.2229A>T ENSP00000251081.6:p.Glu743Asp
ENST00000280904.11:c.2229A>T MANE Select ENSP00000280904.6:p.Glu743Asp
ENST00000648081.1:c.1800A>T ENSP00000497441.1:p.Glu600Asp
ENST00000251081.6:c.2229A>T ENSP00000251081.6:p.Glu743Asp
ENST00000280904.10:c.2229A>T ENSP00000280904.6:p.Glu743Asp
NM_004949.4:c.2229A>T NP_004940.1:p.Glu743Asp
NM_024422.4:c.2229A>T NP_077740.1:p.Glu743Asp
XM_005258206.3:c.1800A>T XP_005258263.1:p.Glu600Asp
XM_005258206.4:c.1800A>T XP_005258263.1:p.Glu600Asp
NM_004949.5:c.2229A>T NP_004940.1:p.Glu743Asp
NM_024422.6:c.2229A>T MANE Select NP_077740.1:p.Glu743Asp