Canonical Allele Identifier: CA363506201

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 800633
• ClinVar RCV Id: RCV000984611
• dbSNP Id: rs1582307951
• MyVariant Identifiers: chr6:g.32007825T>G (hg19) ; chr6:g.32040048T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040048T>G , CM000668.2:g.32040048T>G	GRCh38
NC_000006.11:g.32007825T>G , CM000668.1:g.32007825T>G	GRCh37
NC_000006.10:g.32115804T>G	NCBI36
NG_007941.2:g.6741T>G
NG_008337.2:g.74327A>C
NG_007941.3:g.6744T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.782T>G MANE Select	ENSP00000496625.1:p.Met261Arg
ENST00000418967.6:c.782T>G	ENSP00000408860.2:p.Met261Arg
ENST00000435122.3:c.692T>G	ENSP00000415043.2:p.Met231Arg
ENST00000479074.5:n.840T>G
ENST00000479730.5:n.898T>G
ENST00000483041.5:n.951T>G
ENST00000486063.5:n.918+213T>G
NM_000500.7:c.782T>G	NP_000491.4:p.Met261Arg
NM_001128590.3:c.692T>G	NP_001122062.3:p.Met231Arg
XM_011514314.1:c.377T>G	XP_011512616.1:p.Met126Arg
NM_000500.9:c.782T>G MANE Select	NP_000491.4:p.Met261Arg
NM_001368143.1:c.377T>G	NP_001355072.1:p.Met126Arg
NM_001368144.1:c.377T>G	NP_001355073.1:p.Met126Arg
NM_001128590.4:c.692T>G	NP_001122062.3:p.Met231Arg
NM_001368143.2:c.377T>G	NP_001355072.1:p.Met126Arg
NM_001368144.2:c.377T>G	NP_001355073.1:p.Met126Arg