Canonical Allele Identifier: CA2578618078

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040298G>T , CM000668.2:g.32040298G>T	GRCh38
NC_000006.11:g.32008075G>T , CM000668.1:g.32008075G>T	GRCh37
NC_000006.10:g.32116054G>T	NCBI36
NG_007941.2:g.6991G>T
NG_008337.2:g.74077C>A
NG_007941.3:g.6994G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.939+93G>T MANE Select	ENSP00000496625.1:n.939+93G>T
ENST00000418967.6:c.939+93G>T	ENSP00000408860.2:n.939+93G>T
ENST00000435122.3:c.849+93G>T	ENSP00000415043.2:n.849+93G>T
ENST00000479074.5:n.997+93G>T
ENST00000479730.5:n.1055+93G>T
ENST00000483041.5:n.1108+93G>T
ENST00000486063.5:n.919-108G>T
NM_000500.7:c.939+93G>T	NP_000491.4:n.939+93G>T
NM_001128590.3:c.849+93G>T	NP_001122062.3:n.849+93G>T
XM_011514314.1:c.534+93G>T	XP_011512616.1:n.534+93G>T
NM_000500.9:c.939+93G>T MANE Select	NP_000491.4:n.939+93G>T
NM_001368143.1:c.534+93G>T	NP_001355072.1:n.534+93G>T
NM_001368144.1:c.534+93G>T	NP_001355073.1:n.534+93G>T
NM_001128590.4:c.849+93G>T	NP_001122062.3:n.849+93G>T
NM_001368143.2:c.534+93G>T	NP_001355072.1:n.534+93G>T
NM_001368144.2:c.534+93G>T	NP_001355073.1:n.534+93G>T