Canonical Allele Identifier: CA3732662

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 225335
• ClinVar RCV Id: RCV001357310 ; RCV003155127
• dbSNP Id: rs202242769
• ExAC: 6:32008500 G / A
• gnomAD v2: 6-32008500-G-A
• gnomAD v3: 6-32040723-G-A
• gnomAD v4: 6-32040723-G-A
• COSMIC: COSM6353585
• MyVariant Identifiers: chr6:g.32008500G>A (hg19) ; chr6:g.32040723G>A (hg38)
• PubMed: PMID:17119906 ; PMID:21228398

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040723G>A , CM000668.2:g.32040723G>A	GRCh38
NC_000006.11:g.32008500G>A , CM000668.1:g.32008500G>A	GRCh37
NC_000006.10:g.32116479G>A	NCBI36
NG_007941.2:g.7416G>A
NG_008337.2:g.73652C>T
NG_007941.3:g.7419G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1174G>A MANE Select	ENSP00000496625.1:p.Ala392Thr
ENST00000418967.6:c.1174G>A	ENSP00000408860.2:p.Ala392Thr
ENST00000435122.3:c.1084G>A	ENSP00000415043.2:p.Ala362Thr
ENST00000479074.5:n.1315G>A
ENST00000479730.5:n.1290G>A
ENST00000483041.5:n.1343G>A
ENST00000486063.5:n.1153G>A
NM_000500.7:c.1174G>A	NP_000491.4:p.Ala392Thr
NM_001128590.3:c.1084G>A	NP_001122062.3:p.Ala362Thr
XM_011514314.1:c.769G>A	XP_011512616.1:p.Ala257Thr
NM_000500.9:c.1174G>A MANE Select	NP_000491.4:p.Ala392Thr
NM_001368143.1:c.769G>A	NP_001355072.1:p.Ala257Thr
NM_001368144.1:c.769G>A	NP_001355073.1:p.Ala257Thr
NM_001128590.4:c.1084G>A	NP_001122062.3:p.Ala362Thr
NM_001368143.2:c.769G>A	NP_001355072.1:p.Ala257Thr
NM_001368144.2:c.769G>A	NP_001355073.1:p.Ala257Thr