Canonical Allele Identifier: CA2293654929
Community Standard Title: NM_024422.6(DSC2):c.608G= (p.Arg203=)
Gene: DSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31089461C= , CM000680.2:g.31089461C= GRCh38
NC_000018.9:g.28669424C= , CM000680.1:g.28669424C= GRCh37
NC_000018.8:g.26923422C= NCBI36
NG_008208.2:g.17965G= , LRG_400:g.17965G=

Transcript Alleles

HGVS Amino-acid Change
NM_024422.6:c.608G= MANE Select NP_077740.1:p.Arg203=
ENST00000280904.11:c.608G= MANE Select ENSP00000280904.6:p.Arg203=
NM_004949.4:c.608G= NP_004940.1:p.Arg203=
NM_004949.5:c.608G= NP_004940.1:p.Arg203=
NM_024422.4:c.608G= NP_077740.1:p.Arg203=
ENST00000251081.6:c.608G= ENSP00000251081.6:p.Arg203=
ENST00000251081.8:c.608G= ENSP00000251081.6:p.Arg203=
ENST00000280904.10:c.608G= ENSP00000280904.6:p.Arg203=
ENST00000648081.1:c.179G= ENSP00000497441.1:p.Arg60=
ENST00000682357.1:c.179G= ENSP00000507826.1:p.Arg60=
XM_005258206.3:c.179G= XP_005258263.1:p.Arg60=
XM_005258206.4:c.179G= XP_005258263.1:p.Arg60=