Canonical Allele Identifier: CA2770519537

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038899T>G , CM000668.2:g.32038899T>G	GRCh38
NC_000006.11:g.32006676T>G , CM000668.1:g.32006676T>G	GRCh37
NC_000006.10:g.32114655T>G	NCBI36
NG_007941.2:g.5592T>G
NG_007941.3:g.5595T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.292+88T>G MANE Select	ENSP00000496625.1:n.292+88T>G
ENST00000418967.6:c.292+88T>G	ENSP00000408860.2:n.292+88T>G
ENST00000435122.3:c.203-195T>G	ENSP00000415043.2:n.203-195T>G
ENST00000464325.5:n.229+88T>G
ENST00000466779.5:c.292+88T>G	ENSP00000417321.1:n.292+88T>G
ENST00000466879.5:n.149T>G
ENST00000469053.5:c.203-176T>G	ENSP00000418104.1:n.203-176T>G
ENST00000471671.4:c.292+88T>G	ENSP00000418561.1:n.292+88T>G
ENST00000478281.5:c.292+88T>G	ENSP00000419572.1:n.292+88T>G
ENST00000479074.5:n.350+88T>G
ENST00000479730.5:n.447+88T>G
ENST00000480027.1:n.433T>G
ENST00000483041.5:n.442+88T>G
ENST00000486063.5:n.472+88T>G
ENST00000488465.1:n.300+88T>G
NM_000500.7:c.292+88T>G	NP_000491.4:n.292+88T>G
NM_001128590.3:c.203-195T>G	NP_001122062.3:n.203-195T>G
XM_011514314.1:c.-133+88T>G	XP_011512616.1:n.-133+88T>G
NM_000500.9:c.292+88T>G MANE Select	NP_000491.4:n.292+88T>G
NM_001368143.1:c.-133+88T>G	NP_001355072.1:n.-133+88T>G
NM_001368144.1:c.-132-176T>G	NP_001355073.1:n.-132-176T>G
NM_001128590.4:c.203-195T>G	NP_001122062.3:n.203-195T>G
NM_001368143.2:c.-133+88T>G	NP_001355072.1:n.-133+88T>G
NM_001368144.2:c.-132-176T>G	NP_001355073.1:n.-132-176T>G