Canonical Allele Identifier: CA341179

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 12150
• ClinVar RCV Id: RCV000012933 ; RCV000416339 ; RCV000416360 ; RCV000622562 ; RCV000711382 ; RCV003226157
• dbSNP Id: rs6475
• ExAC: 6:32007203 T / A
• gnomAD v2: 6-32007203-T-A
• gnomAD v3: 6-32039426-T-A
• gnomAD v4: 6-32039426-T-A
• MyVariant Identifiers: chr6:g.32007203T>A (hg19) ; chr6:g.32039426T>A (hg38)
• PubMed: PMID:1496017 ; PMID:1644925 ; PMID:1937474 ; PMID:2303461 ; PMID:3257825 ; PMID:8081391 ; PMID:8175971 ; PMID:9215318 ; PMID:9521938 ; PMID:10857554 ; PMID:12930931 ; PMID:15964450 ; PMID:19750867 ; PMID:20301350 ; PMID:21098686 ; PMID:22270556 ; PMID:23359698 ; PMID:23692712 ; PMID:24667412 ; PMID:24671123 ; PMID:24778650 ; PMID:24904866 ; PMID:25041270

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039426T>A , CM000668.2:g.32039426T>A	GRCh38
NC_000006.11:g.32007203T>A , CM000668.1:g.32007203T>A	GRCh37
NC_000006.10:g.32115182T>A	NCBI36
NG_007941.2:g.6119T>A
NG_008337.2:g.74949A>T
NG_007941.3:g.6122T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.518T>A MANE Select	ENSP00000496625.1:p.Ile173Asn
ENST00000418967.6:c.518T>A	ENSP00000408860.2:p.Ile173Asn
ENST00000435122.3:c.428T>A	ENSP00000415043.2:p.Ile143Asn
ENST00000462278.1:n.106T>A
ENST00000464325.5:n.439T>A
ENST00000466779.5:c.*210T>A	ENSP00000417321.1:n.*210T>A
ENST00000466879.5:n.569T>A
ENST00000469053.5:c.*210T>A	ENSP00000418104.1:n.*210T>A
ENST00000471671.4:c.518T>A	ENSP00000418561.1:p.Ile173Asn
ENST00000478281.5:c.551T>A	ENSP00000419572.1:p.Ile184Asn
ENST00000479074.5:n.576T>A
ENST00000479730.5:n.673T>A
ENST00000483041.5:n.687T>A
ENST00000486063.5:n.698T>A
ENST00000488465.1:n.526T>A
NM_000500.7:c.518T>A	NP_000491.4:p.Ile173Asn
NM_001128590.3:c.428T>A	NP_001122062.3:p.Ile143Asn
XM_011514314.1:c.113T>A	XP_011512616.1:p.Ile38Asn
NM_000500.9:c.518T>A MANE Select	NP_000491.4:p.Ile173Asn
NM_001368143.1:c.113T>A	NP_001355072.1:p.Ile38Asn
NM_001368144.1:c.113T>A	NP_001355073.1:p.Ile38Asn
NM_001128590.4:c.428T>A	NP_001122062.3:p.Ile143Asn
NM_001368143.2:c.113T>A	NP_001355072.1:p.Ile38Asn
NM_001368144.2:c.113T>A	NP_001355073.1:p.Ile38Asn