Canonical Allele Identifier: CA1619396841
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039224G= , CM000668.2:g.32039224G= GRCh38
NC_000006.11:g.32007001G= , CM000668.1:g.32007001G= GRCh37
NC_000006.10:g.32114980G= NCBI36
NG_007941.2:g.5917G=
NG_008337.2:g.75151C=
NG_007941.3:g.5920G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.423G= MANE Select ENSP00000496625.1:p.Glu141=
ENST00000418967.6:c.423G= ENSP00000408860.2:p.Glu141=
ENST00000435122.3:c.333G= ENSP00000415043.2:p.Glu111=
ENST00000462278.1:n.11G=
ENST00000464325.5:n.344G=
ENST00000466779.5:c.*115G= ENSP00000417321.1:n.*115G=
ENST00000466879.5:n.474G=
ENST00000469053.5:c.*115G= ENSP00000418104.1:n.*115G=
ENST00000471671.4:c.423G= ENSP00000418561.1:p.Glu141=
ENST00000478281.5:c.456G= ENSP00000419572.1:p.Glu152=
ENST00000479074.5:n.481G=
ENST00000479730.5:n.578G=
ENST00000483041.5:n.592G=
ENST00000486063.5:n.603G=
ENST00000488465.1:n.431G=
NM_000500.7:c.423G= NP_000491.4:p.Glu141=
NM_001128590.3:c.333G= NP_001122062.3:p.Glu111=
XM_011514314.1:c.18G= XP_011512616.1:p.Glu6=
NM_000500.9:c.423G= MANE Select NP_000491.4:p.Glu141=
NM_001368143.1:c.18G= NP_001355072.1:p.Glu6=
NM_001368144.1:c.18G= NP_001355073.1:p.Glu6=
NM_001128590.4:c.333G= NP_001122062.3:p.Glu111=
NM_001368143.2:c.18G= NP_001355072.1:p.Glu6=
NM_001368144.2:c.18G= NP_001355073.1:p.Glu6=