Canonical Allele Identifier: CA202254
Gene: CYP21A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 196278
ClinVar RCV Id: RCV000177075
dbSNP Id: rs6467

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039081C>A , CM000668.2:g.32039081C>A GRCh38
NC_000006.11:g.32006858C>A , CM000668.1:g.32006858C>A GRCh37
NC_000006.10:g.32114837C>A NCBI36
NG_007941.2:g.5774C>A
NG_007941.3:g.5777C>A

Transcript Alleles

HGVS Amino-acid change
NM_000500.7:c.293-13C>A NP_000491.4:p.=
NM_001128590.3:c.203-13C>A NP_001122062.3:p.=
XM_011514314.1:c.-126C>A XP_011512616.1:p.=
NM_000500.9:c.293-13C>A MANE Select NP_000491.4:p.=
NM_001368143.1:c.-126C>A NP_001355072.1:p.=
NM_001368144.1:c.-126C>A NP_001355073.1:p.=
NM_001128590.4:c.203-13C>A NP_001122062.3:p.=
NM_001368143.2:c.-126C>A NP_001355072.1:p.=
NM_001368144.2:c.-126C>A NP_001355073.1:p.=
ENST00000418967.6:c.293-13C>A ENSP00000408860.2:p.=
ENST00000435122.3:c.203-13C>A ENSP00000415043.2:p.=
ENST00000464325.5:n.230-29C>A
ENST00000466779.5:c.299C>A ENSP00000417321.1:p.Thr100Asn
ENST00000466879.5:n.331C>A
ENST00000469053.5:c.209C>A ENSP00000418104.1:p.Thr70Asn
ENST00000471671.4:c.293-13C>A ENSP00000418561.1:p.=
ENST00000478281.5:c.313C>A ENSP00000419572.1:p.Pro105Thr
ENST00000479074.5:n.351-13C>A
ENST00000479730.5:n.448-13C>A
ENST00000480027.1:n.615C>A
ENST00000483041.5:n.449C>A
ENST00000486063.5:n.473-13C>A
ENST00000488465.1:n.301-13C>A