Canonical Allele Identifier: CA1619397164
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039799G= , CM000668.2:g.32039799G= GRCh38
NC_000006.11:g.32007576G= , CM000668.1:g.32007576G= GRCh37
NC_000006.10:g.32115555G= NCBI36
NG_007941.2:g.6492G=
NG_008337.2:g.74576C=
NG_007941.3:g.6495G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.702G= MANE Select ENSP00000496625.1:p.Arg234=
ENST00000418967.6:c.702G= ENSP00000408860.2:p.Arg234=
ENST00000435122.3:c.612G= ENSP00000415043.2:p.Arg204=
ENST00000462278.1:n.391G=
ENST00000466779.5:c.*394G= ENSP00000417321.1:n.*394G=
ENST00000466879.5:n.753G=
ENST00000479074.5:n.760G=
ENST00000479730.5:n.818G=
ENST00000483041.5:n.871G=
ENST00000486063.5:n.882G=
NM_000500.7:c.702G= NP_000491.4:p.Arg234=
NM_001128590.3:c.612G= NP_001122062.3:p.Arg204=
XM_011514314.1:c.297G= XP_011512616.1:p.Arg99=
NM_000500.9:c.702G= MANE Select NP_000491.4:p.Arg234=
NM_001368143.1:c.297G= NP_001355072.1:p.Arg99=
NM_001368144.1:c.297G= NP_001355073.1:p.Arg99=
NM_001128590.4:c.612G= NP_001122062.3:p.Arg204=
NM_001368143.2:c.297G= NP_001355072.1:p.Arg99=
NM_001368144.2:c.297G= NP_001355073.1:p.Arg99=