Canonical Allele Identifier: CA3732448

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 2445875
• ClinVar RCV Id: RCV003155794
• dbSNP Id: rs760425681
• ExAC: 6:32007374 A / G
• gnomAD v2: 6-32007374-A-G
• gnomAD v3: 6-32039597-A-G
• gnomAD v4: 6-32039597-A-G
• MyVariant Identifiers: chr6:g.32007374A>G (hg19) ; chr6:g.32039597A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039597A>G , CM000668.2:g.32039597A>G	GRCh38
NC_000006.11:g.32007374A>G , CM000668.1:g.32007374A>G	GRCh37
NC_000006.10:g.32115353A>G	NCBI36
NG_007941.2:g.6290A>G
NG_008337.2:g.74778T>C
NG_007941.3:g.6293A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.601A>G MANE Select	ENSP00000496625.1:p.Thr201Ala
ENST00000418967.6:c.601A>G	ENSP00000408860.2:p.Thr201Ala
ENST00000435122.3:c.511A>G	ENSP00000415043.2:p.Thr171Ala
ENST00000462278.1:n.189A>G
ENST00000464325.5:n.522A>G
ENST00000466779.5:c.*293A>G	ENSP00000417321.1:n.*293A>G
ENST00000466879.5:n.652A>G
ENST00000469053.5:c.*293A>G	ENSP00000418104.1:n.*293A>G
ENST00000471671.4:c.562A>G	ENSP00000418561.1:p.Thr188Ala
ENST00000479074.5:n.659A>G
ENST00000479730.5:n.717A>G
ENST00000483041.5:n.770A>G
ENST00000486063.5:n.781A>G
NM_000500.7:c.601A>G	NP_000491.4:p.Thr201Ala
NM_001128590.3:c.511A>G	NP_001122062.3:p.Thr171Ala
XM_011514314.1:c.196A>G	XP_011512616.1:p.Thr66Ala
NM_000500.9:c.601A>G MANE Select	NP_000491.4:p.Thr201Ala
NM_001368143.1:c.196A>G	NP_001355072.1:p.Thr66Ala
NM_001368144.1:c.196A>G	NP_001355073.1:p.Thr66Ala
NM_001128590.4:c.511A>G	NP_001122062.3:p.Thr171Ala
NM_001368143.2:c.196A>G	NP_001355072.1:p.Thr66Ala
NM_001368144.2:c.196A>G	NP_001355073.1:p.Thr66Ala