Canonical Allele Identifier: CA449819250

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32040900-A-G
• MyVariant Identifiers: chr6:g.32008677A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040900A>G , CM000668.2:g.32040900A>G	GRCh38
NC_000006.11:g.32008677A>G , CM000668.1:g.32008677A>G	GRCh37
NC_000006.10:g.32116656A>G	NCBI36
NG_007941.2:g.7593A>G
NG_008337.2:g.73475T>C
NG_007941.3:g.7596A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1254A>G MANE Select	ENSP00000496625.1:p.Arg418=
ENST00000418967.6:c.1254A>G	ENSP00000408860.2:p.Arg418=
ENST00000435122.3:c.1164A>G	ENSP00000415043.2:p.Arg388=
ENST00000479074.5:n.1395A>G
ENST00000479730.5:n.1370A>G
ENST00000483041.5:n.1423A>G
ENST00000486063.5:n.1233A>G
NM_000500.7:c.1254A>G	NP_000491.4:p.Arg418=
NM_001128590.3:c.1164A>G	NP_001122062.3:p.Arg388=
XM_011514314.1:c.849A>G	XP_011512616.1:p.Arg283=
NM_000500.9:c.1254A>G MANE Select	NP_000491.4:p.Arg418=
NM_001368143.1:c.849A>G	NP_001355072.1:p.Arg283=
NM_001368144.1:c.849A>G	NP_001355073.1:p.Arg283=
NM_001128590.4:c.1164A>G	NP_001122062.3:p.Arg388=
NM_001368143.2:c.849A>G	NP_001355072.1:p.Arg283=
NM_001368144.2:c.849A>G	NP_001355073.1:p.Arg283=