Canonical Allele Identifier: CA1619396582
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038853T= , CM000668.2:g.32038853T= GRCh38
NC_000006.11:g.32006630T= , CM000668.1:g.32006630T= GRCh37
NC_000006.10:g.32114609T= NCBI36
NG_007941.2:g.5546T=
NG_007941.3:g.5549T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.292+42T= MANE Select ENSP00000496625.1:n.292+42T=
ENST00000418967.6:c.292+42T= ENSP00000408860.2:n.292+42T=
ENST00000435122.3:c.202+229T= ENSP00000415043.2:n.202+229T=
ENST00000464325.5:n.229+42T=
ENST00000466779.5:c.292+42T= ENSP00000417321.1:n.292+42T=
ENST00000466879.5:n.103T=
ENST00000469053.5:c.203-222T= ENSP00000418104.1:n.203-222T=
ENST00000471671.4:c.292+42T= ENSP00000418561.1:n.292+42T=
ENST00000478281.5:c.292+42T= ENSP00000419572.1:n.292+42T=
ENST00000479074.5:n.350+42T=
ENST00000479730.5:n.447+42T=
ENST00000480027.1:n.387T=
ENST00000483041.5:n.442+42T=
ENST00000486063.5:n.472+42T=
ENST00000488465.1:n.300+42T=
NM_000500.7:c.292+42T= NP_000491.4:n.292+42T=
NM_001128590.3:c.202+229T= NP_001122062.3:n.202+229T=
XM_011514314.1:c.-133+42T= XP_011512616.1:n.-133+42T=
NM_000500.9:c.292+42T= MANE Select NP_000491.4:n.292+42T=
NM_001368143.1:c.-133+42T= NP_001355072.1:n.-133+42T=
NM_001368144.1:c.-132-222T= NP_001355073.1:n.-132-222T=
NM_001128590.4:c.202+229T= NP_001122062.3:n.202+229T=
NM_001368143.2:c.-133+42T= NP_001355072.1:n.-133+42T=
NM_001368144.2:c.-132-222T= NP_001355073.1:n.-132-222T=