Canonical Allele Identifier: CA1619396435
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038578G= , CM000668.2:g.32038578G= GRCh38
NC_000006.11:g.32006355G= , CM000668.1:g.32006355G= GRCh37
NC_000006.10:g.32114334G= NCBI36
NG_007941.2:g.5271G=
NG_007941.3:g.5274G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.156G= MANE Select ENSP00000496625.1:p.Leu52=
ENST00000418967.6:c.156G= ENSP00000408860.2:p.Leu52=
ENST00000435122.3:c.156G= ENSP00000415043.2:p.Leu52=
ENST00000466779.5:c.156G= ENSP00000417321.1:p.Leu52=
ENST00000469053.5:c.156G= ENSP00000418104.1:p.Leu52=
ENST00000471671.4:c.156G= ENSP00000418561.1:p.Leu52=
ENST00000478281.5:c.156G= ENSP00000419572.1:p.Leu52=
ENST00000479074.5:n.214G=
ENST00000479730.5:n.214G=
ENST00000480027.1:n.209G=
ENST00000483041.5:n.209G=
ENST00000486063.5:n.239G=
ENST00000488465.1:n.164G=
NM_000500.7:c.156G= NP_000491.4:p.Leu52=
NM_001128590.3:c.156G= NP_001122062.3:p.Leu52=
XM_011514314.1:c.-269G= XP_011512616.1:n.-269G=
NM_000500.9:c.156G= MANE Select NP_000491.4:p.Leu52=
NM_001368143.1:c.-269G= NP_001355072.1:n.-269G=
NM_001368144.1:c.-179G= NP_001355073.1:n.-179G=
NM_001128590.4:c.156G= NP_001122062.3:p.Leu52=
NM_001368143.2:c.-269G= NP_001355072.1:n.-269G=
NM_001368144.2:c.-179G= NP_001355073.1:n.-179G=