Canonical Allele Identifier: CA363500061

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 448906
• ClinVar RCV Id: RCV000517012
• dbSNP Id: rs1554304513
• gnomAD v4: 6-32038793-A-G
• MyVariant Identifiers: chr6:g.32006570A>G (hg19) ; chr6:g.32038793A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038793A>G , CM000668.2:g.32038793A>G	GRCh38
NC_000006.11:g.32006570A>G , CM000668.1:g.32006570A>G	GRCh37
NC_000006.10:g.32114549A>G	NCBI36
NG_007941.2:g.5486A>G
NG_007941.3:g.5489A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.274A>G MANE Select	ENSP00000496625.1:p.Arg92Gly
ENST00000418967.6:c.274A>G	ENSP00000408860.2:p.Arg92Gly
ENST00000435122.3:c.202+169A>G	ENSP00000415043.2:n.202+169A>G
ENST00000464325.5:n.211A>G
ENST00000466779.5:c.274A>G	ENSP00000417321.1:p.Arg92Gly
ENST00000466879.5:n.43A>G
ENST00000469053.5:c.202+169A>G	ENSP00000418104.1:n.202+169A>G
ENST00000471671.4:c.274A>G	ENSP00000418561.1:p.Arg92Gly
ENST00000478281.5:c.274A>G	ENSP00000419572.1:p.Arg92Gly
ENST00000479074.5:n.332A>G
ENST00000479730.5:n.429A>G
ENST00000480027.1:n.327A>G
ENST00000483041.5:n.424A>G
ENST00000486063.5:n.454A>G
ENST00000488465.1:n.282A>G
NM_000500.7:c.274A>G	NP_000491.4:p.Arg92Gly
NM_001128590.3:c.202+169A>G	NP_001122062.3:n.202+169A>G
XM_011514314.1:c.-151A>G	XP_011512616.1:n.-151A>G
NM_000500.9:c.274A>G MANE Select	NP_000491.4:p.Arg92Gly
NM_001368143.1:c.-151A>G	NP_001355072.1:n.-151A>G
NM_001368144.1:c.-133+169A>G	NP_001355073.1:n.-133+169A>G
NM_001128590.4:c.202+169A>G	NP_001122062.3:n.202+169A>G
NM_001368143.2:c.-151A>G	NP_001355072.1:n.-151A>G
NM_001368144.2:c.-133+169A>G	NP_001355073.1:n.-133+169A>G