Canonical Allele Identifier: CA2293650796
Gene: DSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31079844T= , CM000680.2:g.31079844T= GRCh38
NC_000018.9:g.28659810T= , CM000680.1:g.28659810T= GRCh37
NC_000018.8:g.26913808T= NCBI36
NG_008208.2:g.27582A= , LRG_400:g.27582A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.1234+3A= ENSP00000507826.1:n.1234+3A=
ENST00000251081.8:c.1663+3A= ENSP00000251081.6:n.1663+3A=
ENST00000280904.11:c.1663+3A= MANE Select ENSP00000280904.6:n.1663+3A=
ENST00000648081.1:c.1234+3A= ENSP00000497441.1:n.1234+3A=
ENST00000251081.6:c.1663+3A= ENSP00000251081.6:n.1663+3A=
ENST00000280904.10:c.1663+3A= ENSP00000280904.6:n.1663+3A=
NM_004949.4:c.1663+3A= NP_004940.1:n.1663+3A=
NM_024422.4:c.1663+3A= NP_077740.1:n.1663+3A=
XM_005258206.3:c.1234+3A= XP_005258263.1:n.1234+3A=
XM_005258206.4:c.1234+3A= XP_005258263.1:n.1234+3A=
NM_004949.5:c.1663+3A= NP_004940.1:n.1663+3A=
NM_024422.6:c.1663+3A= MANE Select NP_077740.1:n.1663+3A=