Canonical Allele Identifier: CA1619399922
Gene: CYP21A2 HGNC NCBI
TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32041233G= , CM000668.2:g.32041233G= GRCh38
NC_000006.11:g.32009010G= , CM000668.1:g.32009010G= GRCh37
NC_000006.10:g.32116989G= NCBI36
NG_007941.2:g.7926G=
NG_008337.2:g.73142C=
NG_007941.3:g.7929G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.*99G= (CYP21A2) MANE Select ENSP00000496625.1:n.*99G=
ENST00000644971.2:c.*116C= (TNXB) MANE Select ENSP00000496448.1:n.*116C=
ENST00000647633.1:c.*116C= (TNXB) ENSP00000497649.1:n.*116C=
ENST00000375244.7:c.*116C= (TNXB) ENSP00000364393.3:n.*116C=
ENST00000418967.6:c.*99G= (CYP21A2) ENSP00000408860.2:n.*99G=
ENST00000435122.3:c.*99G= (CYP21A2) ENSP00000415043.2:n.*99G=
ENST00000451343.4:c.*116C= (TNXB) ENSP00000407685.1:n.*116C=
ENST00000479074.5:n.1728G= (CYP21A2)
ENST00000479730.5:n.1703G= (CYP21A2)
ENST00000486063.5:n.1566G= (CYP21A2)
ENST00000490077.5:n.2678C= (TNXB)
ENST00000611016.2:c.6005C= (TNXB) ENSP00000483409.1:n.6005C=
NM_000500.7:c.*99G= (CYP21A2) NP_000491.4:n.*99G=
NM_001128590.3:c.*99G= (CYP21A2) NP_001122062.3:n.*99G=
NM_019105.6:c.*116C= (TNXB) NP_061978.6:n.*116C=
NM_032470.3:c.*116C= (TNXB) NP_115859.2:n.*116C=
XM_011514314.1:c.*99G= (CYP21A2) XP_011512616.1:n.*99G=
NM_000500.9:c.*99G= (CYP21A2) MANE Select NP_000491.4:n.*99G=
NM_001365276.1:c.*116C= (TNXB) NP_001352205.1:n.*116C=
NM_019105.7:c.*116C= (TNXB) NP_061978.6:n.*116C=
NM_001365276.2:c.*116C= (TNXB) MANE Select NP_001352205.1:n.*116C=
NM_001368143.1:c.*99G= (CYP21A2) NP_001355072.1:n.*99G=
NM_001368144.1:c.*99G= (CYP21A2) NP_001355073.1:n.*99G=
NM_019105.8:c.*116C= (TNXB) NP_061978.6:n.*116C=
NM_001128590.4:c.*99G= (CYP21A2) NP_001122062.3:n.*99G=
NM_001368143.2:c.*99G= (CYP21A2) NP_001355072.1:n.*99G=
NM_001368144.2:c.*99G= (CYP21A2) NP_001355073.1:n.*99G=
NM_032470.4:c.*116C= (TNXB) NP_115859.2:n.*116C=