Canonical Allele Identifier: CA2293652211
Gene: DSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31083075A= , CM000680.2:g.31083075A= GRCh38
NC_000018.9:g.28663041A= , CM000680.1:g.28663041A= GRCh37
NC_000018.8:g.26917039A= NCBI36
NG_008208.2:g.24351T= , LRG_400:g.24351T=

Transcript Alleles

HGVS Amino-acid change
ENST00000682357.1:c.514-15T= ENSP00000507826.1:n.514-15T=
ENST00000251081.8:c.943-15T= ENSP00000251081.6:n.943-15T=
ENST00000280904.11:c.943-15T= MANE Select ENSP00000280904.6:n.943-15T=
ENST00000648081.1:c.514-15T= ENSP00000497441.1:n.514-15T=
ENST00000251081.6:c.943-15T= ENSP00000251081.6:n.943-15T=
ENST00000280904.10:c.943-15T= ENSP00000280904.6:n.943-15T=
NM_004949.4:c.943-15T= NP_004940.1:n.943-15T=
NM_024422.4:c.943-15T= NP_077740.1:n.943-15T=
XM_005258206.3:c.514-15T= XP_005258263.1:n.514-15T=
XM_005258206.4:c.514-15T= XP_005258263.1:n.514-15T=
NM_004949.5:c.943-15T= NP_004940.1:n.943-15T=
NM_024422.6:c.943-15T= MANE Select NP_077740.1:n.943-15T=