Canonical Allele Identifier: CA2293654892
Gene: DSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31089365C= , CM000680.2:g.31089365C= GRCh38
NC_000018.9:g.28669328C= , CM000680.1:g.28669328C= GRCh37
NC_000018.8:g.26923326C= NCBI36
NG_008208.2:g.18061G= , LRG_400:g.18061G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.201+74G= ENSP00000507826.1:n.201+74G=
ENST00000251081.8:c.630+74G= ENSP00000251081.6:n.630+74G=
ENST00000280904.11:c.630+74G= MANE Select ENSP00000280904.6:n.630+74G=
ENST00000648081.1:c.201+74G= ENSP00000497441.1:n.201+74G=
ENST00000251081.6:c.630+74G= ENSP00000251081.6:n.630+74G=
ENST00000280904.10:c.630+74G= ENSP00000280904.6:n.630+74G=
NM_004949.4:c.630+74G= NP_004940.1:n.630+74G=
NM_024422.4:c.630+74G= NP_077740.1:n.630+74G=
XM_005258206.3:c.201+74G= XP_005258263.1:n.201+74G=
XM_005258206.4:c.201+74G= XP_005258263.1:n.201+74G=
NM_004949.5:c.630+74G= NP_004940.1:n.630+74G=
NM_024422.6:c.630+74G= MANE Select NP_077740.1:n.630+74G=