Canonical Allele Identifier: CA363503461

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039555T>G , CM000668.2:g.32039555T>G	GRCh38
NC_000006.11:g.32007332T>G , CM000668.1:g.32007332T>G	GRCh37
NC_000006.10:g.32115311T>G	NCBI36
NG_007941.2:g.6248T>G
NG_008337.2:g.74820A>C
NG_007941.3:g.6251T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000500.9:c.559T>G MANE Select	NP_000491.4:p.Leu187Val
ENST00000644719.2:c.559T>G MANE Select	ENSP00000496625.1:p.Leu187Val
NM_000500.7:c.559T>G	NP_000491.4:p.Leu187Val
NM_001128590.3:c.469T>G	NP_001122062.3:p.Leu157Val
NM_001128590.4:c.469T>G	NP_001122062.3:p.Leu157Val
NM_001368143.1:c.154T>G	NP_001355072.1:p.Leu52Val
NM_001368143.2:c.154T>G	NP_001355072.1:p.Leu52Val
NM_001368144.1:c.154T>G	NP_001355073.1:p.Leu52Val
NM_001368144.2:c.154T>G	NP_001355073.1:p.Leu52Val
ENST00000418967.6:c.559T>G	ENSP00000408860.2:p.Leu187Val
ENST00000435122.3:c.469T>G	ENSP00000415043.2:p.Leu157Val
ENST00000462278.1:n.147T>G
ENST00000464325.5:n.480T>G
ENST00000466779.5:c.*251T>G	ENSP00000417321.1:n.*251T>G
ENST00000466879.5:n.610T>G
ENST00000469053.5:c.*251T>G	ENSP00000418104.1:n.*251T>G
ENST00000471671.4:c.550-30T>G	ENSP00000418561.1:n.550-30T>G
ENST00000479074.5:n.617T>G
ENST00000479730.5:n.705-30T>G
ENST00000483041.5:n.728T>G
ENST00000486063.5:n.739T>G
XM_011514314.1:c.154T>G	XP_011512616.1:p.Leu52Val