Canonical Allele Identifier: CA1619397162

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039789T= , CM000668.2:g.32039789T=	GRCh38
NC_000006.11:g.32007566T= , CM000668.1:g.32007566T=	GRCh37
NC_000006.10:g.32115545T=	NCBI36
NG_007941.2:g.6482T=
NG_008337.2:g.74586A=
NG_007941.3:g.6485T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.692T= MANE Select	ENSP00000496625.1:p.Ile231=
ENST00000418967.6:c.692T=	ENSP00000408860.2:p.Ile231=
ENST00000435122.3:c.602T=	ENSP00000415043.2:p.Ile201=
ENST00000462278.1:n.381T=
ENST00000466779.5:c.*384T=	ENSP00000417321.1:n.*384T=
ENST00000466879.5:n.743T=
ENST00000479074.5:n.750T=
ENST00000479730.5:n.808T=
ENST00000483041.5:n.861T=
ENST00000486063.5:n.872T=
NM_000500.7:c.692T=	NP_000491.4:p.Ile231=
NM_001128590.3:c.602T=	NP_001122062.3:p.Ile201=
XM_011514314.1:c.287T=	XP_011512616.1:p.Ile96=
NM_000500.9:c.692T= MANE Select	NP_000491.4:p.Ile231=
NM_001368143.1:c.287T=	NP_001355072.1:p.Ile96=
NM_001368144.1:c.287T=	NP_001355073.1:p.Ile96=
NM_001128590.4:c.602T=	NP_001122062.3:p.Ile201=
NM_001368143.2:c.287T=	NP_001355072.1:p.Ile96=
NM_001368144.2:c.287T=	NP_001355073.1:p.Ile96=