Canonical Allele Identifier: CA2678088401
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32038818-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038818G>A , CM000668.2:g.32038818G>A GRCh38
NC_000006.11:g.32006595G>A , CM000668.1:g.32006595G>A GRCh37
NC_000006.10:g.32114574G>A NCBI36
NG_007941.2:g.5511G>A
NG_007941.3:g.5514G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.292+7G>A MANE Select ENSP00000496625.1:n.292+7G>A
ENST00000418967.6:c.292+7G>A ENSP00000408860.2:n.292+7G>A
ENST00000435122.3:c.202+194G>A ENSP00000415043.2:n.202+194G>A
ENST00000464325.5:n.229+7G>A
ENST00000466779.5:c.292+7G>A ENSP00000417321.1:n.292+7G>A
ENST00000466879.5:n.68G>A
ENST00000469053.5:c.202+194G>A ENSP00000418104.1:n.202+194G>A
ENST00000471671.4:c.292+7G>A ENSP00000418561.1:n.292+7G>A
ENST00000478281.5:c.292+7G>A ENSP00000419572.1:n.292+7G>A
ENST00000479074.5:n.350+7G>A
ENST00000479730.5:n.447+7G>A
ENST00000480027.1:n.352G>A
ENST00000483041.5:n.442+7G>A
ENST00000486063.5:n.472+7G>A
ENST00000488465.1:n.300+7G>A
NM_000500.7:c.292+7G>A NP_000491.4:n.292+7G>A
NM_001128590.3:c.202+194G>A NP_001122062.3:n.202+194G>A
XM_011514314.1:c.-133+7G>A XP_011512616.1:n.-133+7G>A
NM_000500.9:c.292+7G>A MANE Select NP_000491.4:n.292+7G>A
NM_001368143.1:c.-133+7G>A NP_001355072.1:n.-133+7G>A
NM_001368144.1:c.-133+194G>A NP_001355073.1:n.-133+194G>A
NM_001128590.4:c.202+194G>A NP_001122062.3:n.202+194G>A
NM_001368143.2:c.-133+7G>A NP_001355072.1:n.-133+7G>A
NM_001368144.2:c.-133+194G>A NP_001355073.1:n.-133+194G>A