Canonical Allele Identifier: CA363503085

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007209A>G (hg19) ; chr6:g.32039432A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039432A>G , CM000668.2:g.32039432A>G	GRCh38
NC_000006.11:g.32007209A>G , CM000668.1:g.32007209A>G	GRCh37
NC_000006.10:g.32115188A>G	NCBI36
NG_007941.2:g.6125A>G
NG_008337.2:g.74943T>C
NG_007941.3:g.6128A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.524A>G MANE Select	ENSP00000496625.1:p.Tyr175Cys
ENST00000418967.6:c.524A>G	ENSP00000408860.2:p.Tyr175Cys
ENST00000435122.3:c.434A>G	ENSP00000415043.2:p.Tyr145Cys
ENST00000462278.1:n.112A>G
ENST00000464325.5:n.445A>G
ENST00000466779.5:c.*216A>G	ENSP00000417321.1:n.*216A>G
ENST00000466879.5:n.575A>G
ENST00000469053.5:c.*216A>G	ENSP00000418104.1:n.*216A>G
ENST00000471671.4:c.524A>G	ENSP00000418561.1:p.Tyr175Cys
ENST00000478281.5:c.557A>G	ENSP00000419572.1:p.Tyr186Cys
ENST00000479074.5:n.582A>G
ENST00000479730.5:n.679A>G
ENST00000483041.5:n.693A>G
ENST00000486063.5:n.704A>G
ENST00000488465.1:n.532A>G
NM_000500.7:c.524A>G	NP_000491.4:p.Tyr175Cys
NM_001128590.3:c.434A>G	NP_001122062.3:p.Tyr145Cys
XM_011514314.1:c.119A>G	XP_011512616.1:p.Tyr40Cys
NM_000500.9:c.524A>G MANE Select	NP_000491.4:p.Tyr175Cys
NM_001368143.1:c.119A>G	NP_001355072.1:p.Tyr40Cys
NM_001368144.1:c.119A>G	NP_001355073.1:p.Tyr40Cys
NM_001128590.4:c.434A>G	NP_001122062.3:p.Tyr145Cys
NM_001368143.2:c.119A>G	NP_001355072.1:p.Tyr40Cys
NM_001368144.2:c.119A>G	NP_001355073.1:p.Tyr40Cys