Canonical Allele Identifier: CA2293645100
Gene: DSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31067276G= , CM000680.2:g.31067276G= GRCh38
NC_000018.9:g.28647242G= , CM000680.1:g.28647242G= GRCh37
NC_000018.8:g.26901240G= NCBI36
NG_008208.2:g.40150C= , LRG_400:g.40150C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.*739C= ENSP00000507826.1:n.*739C=
ENST00000251081.8:c.*947C= ENSP00000251081.6:n.*947C=
ENST00000280904.11:c.*739C= MANE Select ENSP00000280904.6:n.*739C=
ENST00000648081.1:c.*739C= ENSP00000497441.1:n.*739C=
ENST00000251081.6:c.*947C= ENSP00000251081.6:n.*947C=
ENST00000280904.10:c.*739C= ENSP00000280904.6:n.*739C=
NM_004949.4:c.*947C= NP_004940.1:n.*947C=
NM_024422.4:c.*739C= NP_077740.1:n.*739C=
XM_005258206.3:c.*739C= XP_005258263.1:n.*739C=
XM_005258206.4:c.*739C= XP_005258263.1:n.*739C=
NM_004949.5:c.*947C= NP_004940.1:n.*947C=
NM_024422.6:c.*739C= MANE Select NP_077740.1:n.*739C=