Canonical Allele Identifier: CA1619396844
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039239G= , CM000668.2:g.32039239G= GRCh38
NC_000006.11:g.32007016G= , CM000668.1:g.32007016G= GRCh37
NC_000006.10:g.32114995G= NCBI36
NG_007941.2:g.5932G=
NG_008337.2:g.75136C=
NG_007941.3:g.5935G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.438G= MANE Select ENSP00000496625.1:p.Glu146=
ENST00000418967.6:c.438G= ENSP00000408860.2:p.Glu146=
ENST00000435122.3:c.348G= ENSP00000415043.2:p.Glu116=
ENST00000462278.1:n.26G=
ENST00000464325.5:n.359G=
ENST00000466779.5:c.*130G= ENSP00000417321.1:n.*130G=
ENST00000466879.5:n.489G=
ENST00000469053.5:c.*130G= ENSP00000418104.1:n.*130G=
ENST00000471671.4:c.438G= ENSP00000418561.1:p.Glu146=
ENST00000478281.5:c.471G= ENSP00000419572.1:p.Glu157=
ENST00000479074.5:n.496G=
ENST00000479730.5:n.593G=
ENST00000483041.5:n.607G=
ENST00000486063.5:n.618G=
ENST00000488465.1:n.446G=
NM_000500.7:c.438G= NP_000491.4:p.Glu146=
NM_001128590.3:c.348G= NP_001122062.3:p.Glu116=
XM_011514314.1:c.33G= XP_011512616.1:p.Glu11=
NM_000500.9:c.438G= MANE Select NP_000491.4:p.Glu146=
NM_001368143.1:c.33G= NP_001355072.1:p.Glu11=
NM_001368144.1:c.33G= NP_001355073.1:p.Glu11=
NM_001128590.4:c.348G= NP_001122062.3:p.Glu116=
NM_001368143.2:c.33G= NP_001355072.1:p.Glu11=
NM_001368144.2:c.33G= NP_001355073.1:p.Glu11=