Canonical Allele Identifier: CA256231

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 12156
• ClinVar RCV Id: RCV000711386 ; RCV000012940
• dbSNP Id: rs201552310
• gnomAD v2: 6-32007917-G-A
• gnomAD v3: 6-32040140-G-A
• gnomAD v4: 6-32040140-G-A
• COSMIC: COSM3861944
• MyVariant Identifiers: chr6:g.32007917G>A (hg19) ; chr6:g.32040140G>A (hg38)
• PubMed: PMID:1496017

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040140G>A , CM000668.2:g.32040140G>A	GRCh38
NC_000006.11:g.32007917G>A , CM000668.1:g.32007917G>A	GRCh37
NC_000006.10:g.32115896G>A	NCBI36
NG_007941.2:g.6833G>A
NG_008337.2:g.74235C>T
NG_007941.3:g.6836G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.874G>A MANE Select	ENSP00000496625.1:p.Gly292Ser
ENST00000418967.6:c.874G>A	ENSP00000408860.2:p.Gly292Ser
ENST00000435122.3:c.784G>A	ENSP00000415043.2:p.Gly262Ser
ENST00000479074.5:n.932G>A
ENST00000479730.5:n.990G>A
ENST00000483041.5:n.1043G>A
ENST00000486063.5:n.919-266G>A
NM_000500.7:c.874G>A	NP_000491.4:p.Gly292Ser
NM_001128590.3:c.784G>A	NP_001122062.3:p.Gly262Ser
XM_011514314.1:c.469G>A	XP_011512616.1:p.Gly157Ser
NM_000500.9:c.874G>A MANE Select	NP_000491.4:p.Gly292Ser
NM_001368143.1:c.469G>A	NP_001355072.1:p.Gly157Ser
NM_001368144.1:c.469G>A	NP_001355073.1:p.Gly157Ser
NM_001128590.4:c.784G>A	NP_001122062.3:p.Gly262Ser
NM_001368143.2:c.469G>A	NP_001355072.1:p.Gly157Ser
NM_001368144.2:c.469G>A	NP_001355073.1:p.Gly157Ser