Canonical Allele Identifier: CA1619397065
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039601G= , CM000668.2:g.32039601G= GRCh38
NC_000006.11:g.32007378G= , CM000668.1:g.32007378G= GRCh37
NC_000006.10:g.32115357G= NCBI36
NG_007941.2:g.6294G=
NG_008337.2:g.74774C=
NG_007941.3:g.6297G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.605G= MANE Select ENSP00000496625.1:p.Trp202=
ENST00000418967.6:c.605G= ENSP00000408860.2:p.Trp202=
ENST00000435122.3:c.515G= ENSP00000415043.2:p.Trp172=
ENST00000462278.1:n.193G=
ENST00000464325.5:n.526G=
ENST00000466779.5:c.*297G= ENSP00000417321.1:n.*297G=
ENST00000466879.5:n.656G=
ENST00000469053.5:c.*297G= ENSP00000418104.1:n.*297G=
ENST00000471671.4:c.566G= ENSP00000418561.1:p.Trp189=
ENST00000479074.5:n.663G=
ENST00000479730.5:n.721G=
ENST00000483041.5:n.774G=
ENST00000486063.5:n.785G=
NM_000500.7:c.605G= NP_000491.4:p.Trp202=
NM_001128590.3:c.515G= NP_001122062.3:p.Trp172=
XM_011514314.1:c.200G= XP_011512616.1:p.Trp67=
NM_000500.9:c.605G= MANE Select NP_000491.4:p.Trp202=
NM_001368143.1:c.200G= NP_001355072.1:p.Trp67=
NM_001368144.1:c.200G= NP_001355073.1:p.Trp67=
NM_001128590.4:c.515G= NP_001122062.3:p.Trp172=
NM_001368143.2:c.200G= NP_001355072.1:p.Trp67=
NM_001368144.2:c.200G= NP_001355073.1:p.Trp67=