Canonical Allele Identifier: CA1619396857
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039270C= , CM000668.2:g.32039270C= GRCh38
NC_000006.11:g.32007047C= , CM000668.1:g.32007047C= GRCh37
NC_000006.10:g.32115026C= NCBI36
NG_007941.2:g.5963C=
NG_008337.2:g.75105G=
NG_007941.3:g.5966C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.447+22C= MANE Select ENSP00000496625.1:n.447+22C=
ENST00000418967.6:c.447+22C= ENSP00000408860.2:n.447+22C=
ENST00000435122.3:c.357+22C= ENSP00000415043.2:n.357+22C=
ENST00000462278.1:n.35+22C=
ENST00000464325.5:n.368+22C=
ENST00000466779.5:c.*139+22C= ENSP00000417321.1:n.*139+22C=
ENST00000466879.5:n.498+22C=
ENST00000469053.5:c.*139+22C= ENSP00000418104.1:n.*139+22C=
ENST00000471671.4:c.447+22C= ENSP00000418561.1:n.447+22C=
ENST00000478281.5:c.480+22C= ENSP00000419572.1:n.480+22C=
ENST00000479074.5:n.505+22C=
ENST00000479730.5:n.602+22C=
ENST00000483041.5:n.616+22C=
ENST00000486063.5:n.627+22C=
ENST00000488465.1:n.455+22C=
NM_000500.7:c.447+22C= NP_000491.4:n.447+22C=
NM_001128590.3:c.357+22C= NP_001122062.3:n.357+22C=
XM_011514314.1:c.42+22C= XP_011512616.1:n.42+22C=
NM_000500.9:c.447+22C= MANE Select NP_000491.4:n.447+22C=
NM_001368143.1:c.42+22C= NP_001355072.1:n.42+22C=
NM_001368144.1:c.42+22C= NP_001355073.1:n.42+22C=
NM_001128590.4:c.357+22C= NP_001122062.3:n.357+22C=
NM_001368143.2:c.42+22C= NP_001355072.1:n.42+22C=
NM_001368144.2:c.42+22C= NP_001355073.1:n.42+22C=