Canonical Allele Identifier: CA2578618004

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039322A>G , CM000668.2:g.32039322A>G	GRCh38
NC_000006.11:g.32007099A>G , CM000668.1:g.32007099A>G	GRCh37
NC_000006.10:g.32115078A>G	NCBI36
NG_007941.2:g.6015A>G
NG_008337.2:g.75053T>C
NG_007941.3:g.6018A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.448-34A>G MANE Select	ENSP00000496625.1:n.448-34A>G
ENST00000418967.6:c.448-34A>G	ENSP00000408860.2:n.448-34A>G
ENST00000435122.3:c.358-34A>G	ENSP00000415043.2:n.358-34A>G
ENST00000462278.1:n.36-34A>G
ENST00000464325.5:n.369-34A>G
ENST00000466779.5:c.*140-34A>G	ENSP00000417321.1:n.*140-34A>G
ENST00000466879.5:n.499-34A>G
ENST00000469053.5:c.*140-34A>G	ENSP00000418104.1:n.*140-34A>G
ENST00000471671.4:c.448-34A>G	ENSP00000418561.1:n.448-34A>G
ENST00000478281.5:c.481-34A>G	ENSP00000419572.1:n.481-34A>G
ENST00000479074.5:n.506-34A>G
ENST00000479730.5:n.603-34A>G
ENST00000483041.5:n.617-34A>G
ENST00000486063.5:n.628-34A>G
ENST00000488465.1:n.456-34A>G
NM_000500.7:c.448-34A>G	NP_000491.4:n.448-34A>G
NM_001128590.3:c.358-34A>G	NP_001122062.3:n.358-34A>G
XM_011514314.1:c.43-34A>G	XP_011512616.1:n.43-34A>G
NM_000500.9:c.448-34A>G MANE Select	NP_000491.4:n.448-34A>G
NM_001368143.1:c.43-34A>G	NP_001355072.1:n.43-34A>G
NM_001368144.1:c.43-34A>G	NP_001355073.1:n.43-34A>G
NM_001128590.4:c.358-34A>G	NP_001122062.3:n.358-34A>G
NM_001368143.2:c.43-34A>G	NP_001355072.1:n.43-34A>G
NM_001368144.2:c.43-34A>G	NP_001355073.1:n.43-34A>G