Canonical Allele Identifier: CA1619397334
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040149G= , CM000668.2:g.32040149G= GRCh38
NC_000006.11:g.32007926G= , CM000668.1:g.32007926G= GRCh37
NC_000006.10:g.32115905G= NCBI36
NG_007941.2:g.6842G=
NG_008337.2:g.74226C=
NG_007941.3:g.6845G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.883G= MANE Select ENSP00000496625.1:p.Glu295=
ENST00000418967.6:c.883G= ENSP00000408860.2:p.Glu295=
ENST00000435122.3:c.793G= ENSP00000415043.2:p.Glu265=
ENST00000479074.5:n.941G=
ENST00000479730.5:n.999G=
ENST00000483041.5:n.1052G=
ENST00000486063.5:n.919-257G=
NM_000500.7:c.883G= NP_000491.4:p.Glu295=
NM_001128590.3:c.793G= NP_001122062.3:p.Glu265=
XM_011514314.1:c.478G= XP_011512616.1:p.Glu160=
NM_000500.9:c.883G= MANE Select NP_000491.4:p.Glu295=
NM_001368143.1:c.478G= NP_001355072.1:p.Glu160=
NM_001368144.1:c.478G= NP_001355073.1:p.Glu160=
NM_001128590.4:c.793G= NP_001122062.3:p.Glu265=
NM_001368143.2:c.478G= NP_001355072.1:p.Glu160=
NM_001368144.2:c.478G= NP_001355073.1:p.Glu160=