Canonical Allele Identifier: CA1619399954
Gene: CYP21A2 HGNC NCBI
TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32041259G= , CM000668.2:g.32041259G= GRCh38
NC_000006.11:g.32009036G= , CM000668.1:g.32009036G= GRCh37
NC_000006.10:g.32117015G= NCBI36
NG_007941.2:g.7952G=
NG_008337.2:g.73116C=
NG_007941.3:g.7955G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.*125G= (CYP21A2) MANE Select ENSP00000496625.1:n.*125G=
ENST00000644971.2:c.*90C= (TNXB) MANE Select ENSP00000496448.1:n.*90C=
ENST00000647633.1:c.*90C= (TNXB) ENSP00000497649.1:n.*90C=
ENST00000375244.7:c.*90C= (TNXB) ENSP00000364393.3:n.*90C=
ENST00000418967.6:c.*125G= (CYP21A2) ENSP00000408860.2:n.*125G=
ENST00000435122.3:c.*125G= (CYP21A2) ENSP00000415043.2:n.*125G=
ENST00000451343.4:c.*90C= (TNXB) ENSP00000407685.1:n.*90C=
ENST00000479074.5:n.1754G= (CYP21A2)
ENST00000479730.5:n.1729G= (CYP21A2)
ENST00000486063.5:n.1592G= (CYP21A2)
ENST00000490077.5:n.2652C= (TNXB)
ENST00000611016.2:c.5979C= (TNXB) ENSP00000483409.1:n.5979C=
NM_000500.7:c.*125G= (CYP21A2) NP_000491.4:n.*125G=
NM_001128590.3:c.*125G= (CYP21A2) NP_001122062.3:n.*125G=
NM_019105.6:c.*90C= (TNXB) NP_061978.6:n.*90C=
NM_032470.3:c.*90C= (TNXB) NP_115859.2:n.*90C=
XM_011514314.1:c.*125G= (CYP21A2) XP_011512616.1:n.*125G=
NM_000500.9:c.*125G= (CYP21A2) MANE Select NP_000491.4:n.*125G=
NM_001365276.1:c.*90C= (TNXB) NP_001352205.1:n.*90C=
NM_019105.7:c.*90C= (TNXB) NP_061978.6:n.*90C=
NM_001365276.2:c.*90C= (TNXB) MANE Select NP_001352205.1:n.*90C=
NM_001368143.1:c.*125G= (CYP21A2) NP_001355072.1:n.*125G=
NM_001368144.1:c.*125G= (CYP21A2) NP_001355073.1:n.*125G=
NM_019105.8:c.*90C= (TNXB) NP_061978.6:n.*90C=
NM_001128590.4:c.*125G= (CYP21A2) NP_001122062.3:n.*125G=
NM_001368143.2:c.*125G= (CYP21A2) NP_001355072.1:n.*125G=
NM_001368144.2:c.*125G= (CYP21A2) NP_001355073.1:n.*125G=
NM_032470.4:c.*90C= (TNXB) NP_115859.2:n.*90C=