Canonical Allele Identifier: CA3732360

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 256290
• ClinVar RCV Id: RCV000248501 ; RCV003477867
• dbSNP Id: rs147821751
• ExAC: 6:32006867 G / A
• gnomAD v2: 6-32006867-G-A
• gnomAD v3: 6-32039090-G-A
• gnomAD v4: 6-32039090-G-A
• MyVariant Identifiers: chr6:g.32006867G>A (hg19) ; chr6:g.32039090G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039090G>A , CM000668.2:g.32039090G>A	GRCh38
NC_000006.11:g.32006867G>A , CM000668.1:g.32006867G>A	GRCh37
NC_000006.10:g.32114846G>A	NCBI36
NG_007941.2:g.5783G>A
NG_007941.3:g.5786G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.293-4G>A MANE Select	ENSP00000496625.1:n.293-4G>A
ENST00000418967.6:c.293-4G>A	ENSP00000408860.2:n.293-4G>A
ENST00000435122.3:c.203-4G>A	ENSP00000415043.2:n.203-4G>A
ENST00000464325.5:n.230-20G>A
ENST00000466779.5:c.308G>A	ENSP00000417321.1:p.Cys103Tyr
ENST00000466879.5:n.340G>A
ENST00000469053.5:c.218G>A	ENSP00000418104.1:p.Cys73Tyr
ENST00000471671.4:c.293-4G>A	ENSP00000418561.1:n.293-4G>A
ENST00000478281.5:c.322G>A	ENSP00000419572.1:p.Ala108Thr
ENST00000479074.5:n.351-4G>A
ENST00000479730.5:n.448-4G>A
ENST00000480027.1:n.624G>A
ENST00000483041.5:n.458G>A
ENST00000486063.5:n.473-4G>A
ENST00000488465.1:n.301-4G>A
NM_000500.7:c.293-4G>A	NP_000491.4:n.293-4G>A
NM_001128590.3:c.203-4G>A	NP_001122062.3:n.203-4G>A
XM_011514314.1:c.-117G>A	XP_011512616.1:n.-117G>A
NM_000500.9:c.293-4G>A MANE Select	NP_000491.4:n.293-4G>A
NM_001368143.1:c.-117G>A	NP_001355072.1:n.-117G>A
NM_001368144.1:c.-117G>A	NP_001355073.1:n.-117G>A
NM_001128590.4:c.203-4G>A	NP_001122062.3:n.203-4G>A
NM_001368143.2:c.-117G>A	NP_001355072.1:n.-117G>A
NM_001368144.2:c.-117G>A	NP_001355073.1:n.-117G>A