Canonical Allele Identifier: CA1619397157

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039777T= , CM000668.2:g.32039777T=	GRCh38
NC_000006.11:g.32007554T= , CM000668.1:g.32007554T=	GRCh37
NC_000006.10:g.32115533T=	NCBI36
NG_007941.2:g.6470T=
NG_008337.2:g.74598A=
NG_007941.3:g.6473T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.680T= MANE Select	ENSP00000496625.1:p.Leu227=
ENST00000418967.6:c.680T=	ENSP00000408860.2:p.Leu227=
ENST00000435122.3:c.590T=	ENSP00000415043.2:p.Leu197=
ENST00000462278.1:n.369T=
ENST00000466779.5:c.*372T=	ENSP00000417321.1:n.*372T=
ENST00000466879.5:n.731T=
ENST00000479074.5:n.738T=
ENST00000479730.5:n.796T=
ENST00000483041.5:n.849T=
ENST00000486063.5:n.860T=
NM_000500.7:c.680T=	NP_000491.4:p.Leu227=
NM_001128590.3:c.590T=	NP_001122062.3:p.Leu197=
XM_011514314.1:c.275T=	XP_011512616.1:p.Leu92=
NM_000500.9:c.680T= MANE Select	NP_000491.4:p.Leu227=
NM_001368143.1:c.275T=	NP_001355072.1:p.Leu92=
NM_001368144.1:c.275T=	NP_001355073.1:p.Leu92=
NM_001128590.4:c.590T=	NP_001122062.3:p.Leu197=
NM_001368143.2:c.275T=	NP_001355072.1:p.Leu92=
NM_001368144.2:c.275T=	NP_001355073.1:p.Leu92=