Canonical Allele Identifier: CA1619396612
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038894T= , CM000668.2:g.32038894T= GRCh38
NC_000006.11:g.32006671T= , CM000668.1:g.32006671T= GRCh37
NC_000006.10:g.32114650T= NCBI36
NG_007941.2:g.5587T=
NG_007941.3:g.5590T=

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.292+83T= MANE Select ENSP00000496625.1:n.292+83T=
ENST00000418967.6:c.292+83T= ENSP00000408860.2:n.292+83T=
ENST00000435122.3:c.203-200T= ENSP00000415043.2:n.203-200T=
ENST00000464325.5:n.229+83T=
ENST00000466779.5:c.292+83T= ENSP00000417321.1:n.292+83T=
ENST00000466879.5:n.144T=
ENST00000469053.5:c.203-181T= ENSP00000418104.1:n.203-181T=
ENST00000471671.4:c.292+83T= ENSP00000418561.1:n.292+83T=
ENST00000478281.5:c.292+83T= ENSP00000419572.1:n.292+83T=
ENST00000479074.5:n.350+83T=
ENST00000479730.5:n.447+83T=
ENST00000480027.1:n.428T=
ENST00000483041.5:n.442+83T=
ENST00000486063.5:n.472+83T=
ENST00000488465.1:n.300+83T=
NM_000500.7:c.292+83T= NP_000491.4:n.292+83T=
NM_001128590.3:c.203-200T= NP_001122062.3:n.203-200T=
XM_011514314.1:c.-133+83T= XP_011512616.1:n.-133+83T=
NM_000500.9:c.292+83T= MANE Select NP_000491.4:n.292+83T=
NM_001368143.1:c.-133+83T= NP_001355072.1:n.-133+83T=
NM_001368144.1:c.-132-181T= NP_001355073.1:n.-132-181T=
NM_001128590.4:c.203-200T= NP_001122062.3:n.203-200T=
NM_001368143.2:c.-133+83T= NP_001355072.1:n.-133+83T=
NM_001368144.2:c.-132-181T= NP_001355073.1:n.-132-181T=