Canonical Allele Identifier: CA363500654

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 12177
• ClinVar RCV Id: RCV000012959
• dbSNP Id: rs1582302625
• gnomAD v4: 6-32039092-A-G
• MyVariant Identifiers: chr6:g.32006869A>G (hg19) ; chr6:g.32039092A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039092A>G , CM000668.2:g.32039092A>G	GRCh38
NC_000006.11:g.32006869A>G , CM000668.1:g.32006869A>G	GRCh37
NC_000006.10:g.32114848A>G	NCBI36
NG_007941.2:g.5785A>G
NG_007941.3:g.5788A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.293-2A>G MANE Select	ENSP00000496625.1:n.293-2A>G
ENST00000418967.6:c.293-2A>G	ENSP00000408860.2:n.293-2A>G
ENST00000435122.3:c.203-2A>G	ENSP00000415043.2:n.203-2A>G
ENST00000464325.5:n.230-18A>G
ENST00000466779.5:c.310A>G	ENSP00000417321.1:p.Arg104Gly
ENST00000466879.5:n.342A>G
ENST00000469053.5:c.220A>G	ENSP00000418104.1:p.Arg74Gly
ENST00000471671.4:c.293-2A>G	ENSP00000418561.1:n.293-2A>G
ENST00000478281.5:c.324A>G	ENSP00000419572.1:p.Ala108=
ENST00000479074.5:n.351-2A>G
ENST00000479730.5:n.448-2A>G
ENST00000480027.1:n.626A>G
ENST00000483041.5:n.460A>G
ENST00000486063.5:n.473-2A>G
ENST00000488465.1:n.301-2A>G
NM_000500.7:c.293-2A>G	NP_000491.4:n.293-2A>G
NM_001128590.3:c.203-2A>G	NP_001122062.3:n.203-2A>G
XM_011514314.1:c.-115A>G	XP_011512616.1:n.-115A>G
NM_000500.9:c.293-2A>G MANE Select	NP_000491.4:n.293-2A>G
NM_001368143.1:c.-115A>G	NP_001355072.1:n.-115A>G
NM_001368144.1:c.-115A>G	NP_001355073.1:n.-115A>G
NM_001128590.4:c.203-2A>G	NP_001122062.3:n.203-2A>G
NM_001368143.2:c.-115A>G	NP_001355072.1:n.-115A>G
NM_001368144.2:c.-115A>G	NP_001355073.1:n.-115A>G