Canonical Allele Identifier: CA449818417

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1278482654
• gnomAD v2: 6-32006506-G-A
• gnomAD v4: 6-32038729-G-A
• MyVariant Identifiers: chr6:g.32006506G>A (hg19) ; chr6:g.32038729G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038729G>A , CM000668.2:g.32038729G>A	GRCh38
NC_000006.11:g.32006506G>A , CM000668.1:g.32006506G>A	GRCh37
NC_000006.10:g.32114485G>A	NCBI36
NG_007941.2:g.5422G>A
NG_007941.3:g.5425G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.210G>A MANE Select	ENSP00000496625.1:p.Val70=
ENST00000418967.6:c.210G>A	ENSP00000408860.2:p.Val70=
ENST00000435122.3:c.202+105G>A	ENSP00000415043.2:n.202+105G>A
ENST00000464325.5:n.147G>A
ENST00000466779.5:c.210G>A	ENSP00000417321.1:p.Val70=
ENST00000469053.5:c.202+105G>A	ENSP00000418104.1:n.202+105G>A
ENST00000471671.4:c.210G>A	ENSP00000418561.1:p.Val70=
ENST00000478281.5:c.210G>A	ENSP00000419572.1:p.Val70=
ENST00000479074.5:n.268G>A
ENST00000479730.5:n.365G>A
ENST00000480027.1:n.263G>A
ENST00000483041.5:n.360G>A
ENST00000486063.5:n.390G>A
ENST00000488465.1:n.218G>A
NM_000500.7:c.210G>A	NP_000491.4:p.Val70=
NM_001128590.3:c.202+105G>A	NP_001122062.3:n.202+105G>A
XM_011514314.1:c.-215G>A	XP_011512616.1:n.-215G>A
NM_000500.9:c.210G>A MANE Select	NP_000491.4:p.Val70=
NM_001368143.1:c.-215G>A	NP_001355072.1:n.-215G>A
NM_001368144.1:c.-133+105G>A	NP_001355073.1:n.-133+105G>A
NM_001128590.4:c.202+105G>A	NP_001122062.3:n.202+105G>A
NM_001368143.2:c.-215G>A	NP_001355072.1:n.-215G>A
NM_001368144.2:c.-133+105G>A	NP_001355073.1:n.-133+105G>A