Canonical Allele Identifier: CA2293646632
Gene: DSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31070714C= , CM000680.2:g.31070714C= GRCh38
NC_000018.9:g.28650680C= , CM000680.1:g.28650680C= GRCh37
NC_000018.8:g.26904678C= NCBI36
NG_008208.2:g.36712G= , LRG_400:g.36712G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.1821+12G= ENSP00000507826.1:n.1821+12G=
ENST00000251081.8:c.2250+12G= ENSP00000251081.6:n.2250+12G=
ENST00000280904.11:c.2250+12G= MANE Select ENSP00000280904.6:n.2250+12G=
ENST00000648081.1:c.1821+12G= ENSP00000497441.1:n.1821+12G=
ENST00000251081.6:c.2250+12G= ENSP00000251081.6:n.2250+12G=
ENST00000280904.10:c.2250+12G= ENSP00000280904.6:n.2250+12G=
NM_004949.4:c.2250+12G= NP_004940.1:n.2250+12G=
NM_024422.4:c.2250+12G= NP_077740.1:n.2250+12G=
XM_005258206.3:c.1821+12G= XP_005258263.1:n.1821+12G=
XM_005258206.4:c.1821+12G= XP_005258263.1:n.1821+12G=
NM_004949.5:c.2250+12G= NP_004940.1:n.2250+12G=
NM_024422.6:c.2250+12G= MANE Select NP_077740.1:n.2250+12G=