Canonical Allele Identifier: CA3229021146
Community Standard Title: NM_024422.6(DSC2):c.96C= (p.Cys32=)
Gene: DSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31093617G= , CM000680.2:g.31093617G= GRCh38
NC_000018.9:g.28673580G= , CM000680.1:g.28673580G= GRCh37
NC_000018.8:g.26927578G= NCBI36
NG_008208.2:g.13809C= , LRG_400:g.13809C=

Transcript Alleles

HGVS Amino-acid Change
NM_024422.6:c.96C= MANE Select NP_077740.1:p.Cys32=
ENST00000280904.11:c.96C= MANE Select ENSP00000280904.6:p.Cys32=
NM_004949.4:c.96C= NP_004940.1:p.Cys32=
NM_004949.5:c.96C= NP_004940.1:p.Cys32=
NM_024422.4:c.96C= NP_077740.1:p.Cys32=
ENST00000251081.6:c.96C= ENSP00000251081.6:p.Cys32=
ENST00000251081.8:c.96C= ENSP00000251081.6:p.Cys32=
ENST00000280904.10:c.96C= ENSP00000280904.6:p.Cys32=
ENST00000648081.1:c.-371C= ENSP00000497441.1:n.-371C=
ENST00000682357.1:c.-334C= ENSP00000507826.1:n.-334C=
XM_005258206.3:c.-334C= XP_005258263.1:n.-334C=
XM_005258206.4:c.-334C= XP_005258263.1:n.-334C=