Canonical Allele Identifier: CA1619396800

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039149C= , CM000668.2:g.32039149C=	GRCh38
NC_000006.11:g.32006926C= , CM000668.1:g.32006926C=	GRCh37
NC_000006.10:g.32114905C=	NCBI36
NG_007941.2:g.5842C=
NG_007941.3:g.5845C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.348C= MANE Select	ENSP00000496625.1:p.Leu116=
ENST00000418967.6:c.348C=	ENSP00000408860.2:p.Leu116=
ENST00000435122.3:c.258C=	ENSP00000415043.2:p.Leu86=
ENST00000464325.5:n.269C=
ENST00000466779.5:c.*40C=	ENSP00000417321.1:n.*40C=
ENST00000466879.5:n.399C=
ENST00000469053.5:c.*40C=	ENSP00000418104.1:n.*40C=
ENST00000471671.4:c.348C=	ENSP00000418561.1:p.Leu116=
ENST00000478281.5:c.381C=	ENSP00000419572.1:p.Leu127=
ENST00000479074.5:n.406C=
ENST00000479730.5:n.503C=
ENST00000483041.5:n.517C=
ENST00000486063.5:n.528C=
ENST00000488465.1:n.356C=
NM_000500.7:c.348C=	NP_000491.4:p.Leu116=
NM_001128590.3:c.258C=	NP_001122062.3:p.Leu86=
XM_011514314.1:c.-58C=	XP_011512616.1:n.-58C=
NM_000500.9:c.348C= MANE Select	NP_000491.4:p.Leu116=
NM_001368143.1:c.-58C=	NP_001355072.1:n.-58C=
NM_001368144.1:c.-58C=	NP_001355073.1:n.-58C=
NM_001128590.4:c.258C=	NP_001122062.3:p.Leu86=
NM_001368143.2:c.-58C=	NP_001355072.1:n.-58C=
NM_001368144.2:c.-58C=	NP_001355073.1:n.-58C=