Canonical Allele Identifier: CA2293645125
Gene: DSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31067326A= , CM000680.2:g.31067326A= GRCh38
NC_000018.9:g.28647292A= , CM000680.1:g.28647292A= GRCh37
NC_000018.8:g.26901290A= NCBI36
NG_008208.2:g.40100T= , LRG_400:g.40100T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.*689T= ENSP00000507826.1:n.*689T=
ENST00000251081.8:c.*897T= ENSP00000251081.6:n.*897T=
ENST00000280904.11:c.*689T= MANE Select ENSP00000280904.6:n.*689T=
ENST00000648081.1:c.*689T= ENSP00000497441.1:n.*689T=
ENST00000251081.6:c.*897T= ENSP00000251081.6:n.*897T=
ENST00000280904.10:c.*689T= ENSP00000280904.6:n.*689T=
NM_004949.4:c.*897T= NP_004940.1:n.*897T=
NM_024422.4:c.*689T= NP_077740.1:n.*689T=
XM_005258206.3:c.*689T= XP_005258263.1:n.*689T=
XM_005258206.4:c.*689T= XP_005258263.1:n.*689T=
NM_004949.5:c.*897T= NP_004940.1:n.*897T=
NM_024422.6:c.*689T= MANE Select NP_077740.1:n.*689T=