Canonical Allele Identifier: CA363505182
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039801A>T , CM000668.2:g.32039801A>T GRCh38
NC_000006.11:g.32007578A>T , CM000668.1:g.32007578A>T GRCh37
NC_000006.10:g.32115557A>T NCBI36
NG_007941.2:g.6494A>T
NG_008337.2:g.74574T>A
NG_007941.3:g.6497A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.704A>T MANE Select ENSP00000496625.1:p.Asp235Val
ENST00000418967.6:c.704A>T ENSP00000408860.2:p.Asp235Val
ENST00000435122.3:c.614A>T ENSP00000415043.2:p.Asp205Val
ENST00000462278.1:n.393A>T
ENST00000466779.5:c.*396A>T ENSP00000417321.1:n.*396A>T
ENST00000466879.5:n.755A>T
ENST00000479074.5:n.762A>T
ENST00000479730.5:n.820A>T
ENST00000483041.5:n.873A>T
ENST00000486063.5:n.884A>T
NM_000500.7:c.704A>T NP_000491.4:p.Asp235Val
NM_001128590.3:c.614A>T NP_001122062.3:p.Asp205Val
XM_011514314.1:c.299A>T XP_011512616.1:p.Asp100Val
NM_000500.9:c.704A>T MANE Select NP_000491.4:p.Asp235Val
NM_001368143.1:c.299A>T NP_001355072.1:p.Asp100Val
NM_001368144.1:c.299A>T NP_001355073.1:p.Asp100Val
NM_001128590.4:c.614A>T NP_001122062.3:p.Asp205Val
NM_001368143.2:c.299A>T NP_001355072.1:p.Asp100Val
NM_001368144.2:c.299A>T NP_001355073.1:p.Asp100Val