Canonical Allele Identifier: CA1619396535

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038806T= , CM000668.2:g.32038806T=	GRCh38
NC_000006.11:g.32006583T= , CM000668.1:g.32006583T=	GRCh37
NC_000006.10:g.32114562T=	NCBI36
NG_007941.2:g.5499T=
NG_007941.3:g.5502T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.287T= MANE Select	ENSP00000496625.1:p.Leu96=
ENST00000418967.6:c.287T=	ENSP00000408860.2:p.Leu96=
ENST00000435122.3:c.202+182T=	ENSP00000415043.2:n.202+182T=
ENST00000464325.5:n.224T=
ENST00000466779.5:c.287T=	ENSP00000417321.1:p.Leu96=
ENST00000466879.5:n.56T=
ENST00000469053.5:c.202+182T=	ENSP00000418104.1:n.202+182T=
ENST00000471671.4:c.287T=	ENSP00000418561.1:p.Leu96=
ENST00000478281.5:c.287T=	ENSP00000419572.1:p.Leu96=
ENST00000479074.5:n.345T=
ENST00000479730.5:n.442T=
ENST00000480027.1:n.340T=
ENST00000483041.5:n.437T=
ENST00000486063.5:n.467T=
ENST00000488465.1:n.295T=
NM_000500.7:c.287T=	NP_000491.4:p.Leu96=
NM_001128590.3:c.202+182T=	NP_001122062.3:n.202+182T=
XM_011514314.1:c.-138T=	XP_011512616.1:n.-138T=
NM_000500.9:c.287T= MANE Select	NP_000491.4:p.Leu96=
NM_001368143.1:c.-138T=	NP_001355072.1:n.-138T=
NM_001368144.1:c.-133+182T=	NP_001355073.1:n.-133+182T=
NM_001128590.4:c.202+182T=	NP_001122062.3:n.202+182T=
NM_001368143.2:c.-138T=	NP_001355072.1:n.-138T=
NM_001368144.2:c.-133+182T=	NP_001355073.1:n.-133+182T=