Canonical Allele Identifier: CA2293654812
Gene: DSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31089212G= , CM000680.2:g.31089212G= GRCh38
NC_000018.9:g.28669175G= , CM000680.1:g.28669175G= GRCh37
NC_000018.8:g.26923173G= NCBI36
NG_008208.2:g.18214C= , LRG_400:g.18214C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.201+227C= ENSP00000507826.1:n.201+227C=
ENST00000251081.8:c.630+227C= ENSP00000251081.6:n.630+227C=
ENST00000280904.11:c.630+227C= MANE Select ENSP00000280904.6:n.630+227C=
ENST00000648081.1:c.201+227C= ENSP00000497441.1:n.201+227C=
ENST00000251081.6:c.630+227C= ENSP00000251081.6:n.630+227C=
ENST00000280904.10:c.630+227C= ENSP00000280904.6:n.630+227C=
NM_004949.4:c.630+227C= NP_004940.1:n.630+227C=
NM_024422.4:c.630+227C= NP_077740.1:n.630+227C=
XM_005258206.3:c.201+227C= XP_005258263.1:n.201+227C=
XM_005258206.4:c.201+227C= XP_005258263.1:n.201+227C=
NM_004949.5:c.630+227C= NP_004940.1:n.630+227C=
NM_024422.6:c.630+227C= MANE Select NP_077740.1:n.630+227C=