Canonical Allele Identifier: CA1619397279
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040021G= , CM000668.2:g.32040021G= GRCh38
NC_000006.11:g.32007798G= , CM000668.1:g.32007798G= GRCh37
NC_000006.10:g.32115777G= NCBI36
NG_007941.2:g.6714G=
NG_008337.2:g.74354C=
NG_007941.3:g.6717G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.755G= MANE Select ENSP00000496625.1:p.Gly252=
ENST00000418967.6:c.755G= ENSP00000408860.2:p.Gly252=
ENST00000435122.3:c.665G= ENSP00000415043.2:p.Gly222=
ENST00000479074.5:n.813G=
ENST00000479730.5:n.871G=
ENST00000483041.5:n.924G=
ENST00000486063.5:n.918+186G=
NM_000500.7:c.755G= NP_000491.4:p.Gly252=
NM_001128590.3:c.665G= NP_001122062.3:p.Gly222=
XM_011514314.1:c.350G= XP_011512616.1:p.Gly117=
NM_000500.9:c.755G= MANE Select NP_000491.4:p.Gly252=
NM_001368143.1:c.350G= NP_001355072.1:p.Gly117=
NM_001368144.1:c.350G= NP_001355073.1:p.Gly117=
NM_001128590.4:c.665G= NP_001122062.3:p.Gly222=
NM_001368143.2:c.350G= NP_001355072.1:p.Gly117=
NM_001368144.2:c.350G= NP_001355073.1:p.Gly117=