Canonical Allele Identifier: CA449818704

Gene: CYP21A2

Linked Data

• dbSNP Id: rs143240527
• gnomAD v3: 6-32039593-A-G
• gnomAD v4: 6-32039593-A-G
• MyVariant Identifiers: chr6:g.32007370A>G (hg19) ; chr6:g.32039593A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039593A>G , CM000668.2:g.32039593A>G	GRCh38
NC_000006.11:g.32007370A>G , CM000668.1:g.32007370A>G	GRCh37
NC_000006.10:g.32115349A>G	NCBI36
NG_007941.2:g.6286A>G
NG_008337.2:g.74782T>C
NG_007941.3:g.6289A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.597A>G MANE Select	ENSP00000496625.1:p.Leu199=
ENST00000418967.6:c.597A>G	ENSP00000408860.2:p.Leu199=
ENST00000435122.3:c.507A>G	ENSP00000415043.2:p.Leu169=
ENST00000462278.1:n.185A>G
ENST00000464325.5:n.518A>G
ENST00000466779.5:c.*289A>G	ENSP00000417321.1:n.*289A>G
ENST00000466879.5:n.648A>G
ENST00000469053.5:c.*289A>G	ENSP00000418104.1:n.*289A>G
ENST00000471671.4:c.558A>G	ENSP00000418561.1:p.Leu186=
ENST00000479074.5:n.655A>G
ENST00000479730.5:n.713A>G
ENST00000483041.5:n.766A>G
ENST00000486063.5:n.777A>G
NM_000500.7:c.597A>G	NP_000491.4:p.Leu199=
NM_001128590.3:c.507A>G	NP_001122062.3:p.Leu169=
XM_011514314.1:c.192A>G	XP_011512616.1:p.Leu64=
NM_000500.9:c.597A>G MANE Select	NP_000491.4:p.Leu199=
NM_001368143.1:c.192A>G	NP_001355072.1:p.Leu64=
NM_001368144.1:c.192A>G	NP_001355073.1:p.Leu64=
NM_001128590.4:c.507A>G	NP_001122062.3:p.Leu169=
NM_001368143.2:c.192A>G	NP_001355072.1:p.Leu64=
NM_001368144.2:c.192A>G	NP_001355073.1:p.Leu64=