Canonical Allele Identifier: CA1619396878
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039297G= , CM000668.2:g.32039297G= GRCh38
NC_000006.11:g.32007074G= , CM000668.1:g.32007074G= GRCh37
NC_000006.10:g.32115053G= NCBI36
NG_007941.2:g.5990G=
NG_008337.2:g.75078C=
NG_007941.3:g.5993G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.447+49G= MANE Select ENSP00000496625.1:n.447+49G=
ENST00000418967.6:c.447+49G= ENSP00000408860.2:n.447+49G=
ENST00000435122.3:c.357+49G= ENSP00000415043.2:n.357+49G=
ENST00000462278.1:n.35+49G=
ENST00000464325.5:n.368+49G=
ENST00000466779.5:c.*139+49G= ENSP00000417321.1:n.*139+49G=
ENST00000466879.5:n.498+49G=
ENST00000469053.5:c.*139+49G= ENSP00000418104.1:n.*139+49G=
ENST00000471671.4:c.447+49G= ENSP00000418561.1:n.447+49G=
ENST00000478281.5:c.480+49G= ENSP00000419572.1:n.480+49G=
ENST00000479074.5:n.505+49G=
ENST00000479730.5:n.602+49G=
ENST00000483041.5:n.616+49G=
ENST00000486063.5:n.627+49G=
ENST00000488465.1:n.455+49G=
NM_000500.7:c.447+49G= NP_000491.4:n.447+49G=
NM_001128590.3:c.357+49G= NP_001122062.3:n.357+49G=
XM_011514314.1:c.42+49G= XP_011512616.1:n.42+49G=
NM_000500.9:c.447+49G= MANE Select NP_000491.4:n.447+49G=
NM_001368143.1:c.42+49G= NP_001355072.1:n.42+49G=
NM_001368144.1:c.42+49G= NP_001355073.1:n.42+49G=
NM_001128590.4:c.357+49G= NP_001122062.3:n.357+49G=
NM_001368143.2:c.42+49G= NP_001355072.1:n.42+49G=
NM_001368144.2:c.42+49G= NP_001355073.1:n.42+49G=