Canonical Allele Identifier: CA363502885

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039405C>G , CM000668.2:g.32039405C>G	GRCh38
NC_000006.11:g.32007182C>G , CM000668.1:g.32007182C>G	GRCh37
NC_000006.10:g.32115161C>G	NCBI36
NG_007941.2:g.6098C>G
NG_008337.2:g.74970G>C
NG_007941.3:g.6101C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000500.9:c.497C>G MANE Select	NP_000491.4:p.Ser166Cys
ENST00000644719.2:c.497C>G MANE Select	ENSP00000496625.1:p.Ser166Cys
NM_000500.7:c.497C>G	NP_000491.4:p.Ser166Cys
NM_001128590.3:c.407C>G	NP_001122062.3:p.Ser136Cys
NM_001128590.4:c.407C>G	NP_001122062.3:p.Ser136Cys
NM_001368143.1:c.92C>G	NP_001355072.1:p.Ser31Cys
NM_001368143.2:c.92C>G	NP_001355072.1:p.Ser31Cys
NM_001368144.1:c.92C>G	NP_001355073.1:p.Ser31Cys
NM_001368144.2:c.92C>G	NP_001355073.1:p.Ser31Cys
ENST00000418967.6:c.497C>G	ENSP00000408860.2:p.Ser166Cys
ENST00000435122.3:c.407C>G	ENSP00000415043.2:p.Ser136Cys
ENST00000462278.1:n.85C>G
ENST00000464325.5:n.418C>G
ENST00000466779.5:c.*189C>G	ENSP00000417321.1:n.*189C>G
ENST00000466879.5:n.548C>G
ENST00000469053.5:c.*189C>G	ENSP00000418104.1:n.*189C>G
ENST00000471671.4:c.497C>G	ENSP00000418561.1:p.Ser166Cys
ENST00000478281.5:c.530C>G	ENSP00000419572.1:p.Ser177Cys
ENST00000479074.5:n.555C>G
ENST00000479730.5:n.652C>G
ENST00000483041.5:n.666C>G
ENST00000486063.5:n.677C>G
ENST00000488465.1:n.505C>G
XM_011514314.1:c.92C>G	XP_011512616.1:p.Ser31Cys