Canonical Allele Identifier: CA2293652205
Gene: DSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31083061C= , CM000680.2:g.31083061C= GRCh38
NC_000018.9:g.28663027C= , CM000680.1:g.28663027C= GRCh37
NC_000018.8:g.26917025C= NCBI36
NG_008208.2:g.24365G= , LRG_400:g.24365G=

Transcript Alleles

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