Canonical Allele Identifier: CA1619396845

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039240T= , CM000668.2:g.32039240T=	GRCh38
NC_000006.11:g.32007017T= , CM000668.1:g.32007017T=	GRCh37
NC_000006.10:g.32114996T=	NCBI36
NG_007941.2:g.5933T=
NG_008337.2:g.75135A=
NG_007941.3:g.5936T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.439T= MANE Select	ENSP00000496625.1:p.Phe147=
ENST00000418967.6:c.439T=	ENSP00000408860.2:p.Phe147=
ENST00000435122.3:c.349T=	ENSP00000415043.2:p.Phe117=
ENST00000462278.1:n.27T=
ENST00000464325.5:n.360T=
ENST00000466779.5:c.*131T=	ENSP00000417321.1:n.*131T=
ENST00000466879.5:n.490T=
ENST00000469053.5:c.*131T=	ENSP00000418104.1:n.*131T=
ENST00000471671.4:c.439T=	ENSP00000418561.1:p.Phe147=
ENST00000478281.5:c.472T=	ENSP00000419572.1:p.Phe158=
ENST00000479074.5:n.497T=
ENST00000479730.5:n.594T=
ENST00000483041.5:n.608T=
ENST00000486063.5:n.619T=
ENST00000488465.1:n.447T=
NM_000500.7:c.439T=	NP_000491.4:p.Phe147=
NM_001128590.3:c.349T=	NP_001122062.3:p.Phe117=
XM_011514314.1:c.34T=	XP_011512616.1:p.Phe12=
NM_000500.9:c.439T= MANE Select	NP_000491.4:p.Phe147=
NM_001368143.1:c.34T=	NP_001355072.1:p.Phe12=
NM_001368144.1:c.34T=	NP_001355073.1:p.Phe12=
NM_001128590.4:c.349T=	NP_001122062.3:p.Phe117=
NM_001368143.2:c.34T=	NP_001355072.1:p.Phe12=
NM_001368144.2:c.34T=	NP_001355073.1:p.Phe12=