Canonical Allele Identifier: CA2678088564
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32038950-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038950G>T , CM000668.2:g.32038950G>T GRCh38
NC_000006.11:g.32006727G>T , CM000668.1:g.32006727G>T GRCh37
NC_000006.10:g.32114706G>T NCBI36
NG_007941.2:g.5643G>T
NG_007941.3:g.5646G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.292+139G>T MANE Select ENSP00000496625.1:n.292+139G>T
ENST00000418967.6:c.292+139G>T ENSP00000408860.2:n.292+139G>T
ENST00000435122.3:c.203-144G>T ENSP00000415043.2:n.203-144G>T
ENST00000464325.5:n.229+139G>T
ENST00000466779.5:c.293-125G>T ENSP00000417321.1:n.293-125G>T
ENST00000466879.5:n.200G>T
ENST00000469053.5:c.203-125G>T ENSP00000418104.1:n.203-125G>T
ENST00000471671.4:c.292+139G>T ENSP00000418561.1:n.292+139G>T
ENST00000478281.5:c.293-111G>T ENSP00000419572.1:n.293-111G>T
ENST00000479074.5:n.350+139G>T
ENST00000479730.5:n.447+139G>T
ENST00000480027.1:n.484G>T
ENST00000483041.5:n.443-125G>T
ENST00000486063.5:n.472+139G>T
ENST00000488465.1:n.300+139G>T
NM_000500.7:c.292+139G>T NP_000491.4:n.292+139G>T
NM_001128590.3:c.203-144G>T NP_001122062.3:n.203-144G>T
XM_011514314.1:c.-132-125G>T XP_011512616.1:n.-132-125G>T
NM_000500.9:c.292+139G>T MANE Select NP_000491.4:n.292+139G>T
NM_001368143.1:c.-132-125G>T NP_001355072.1:n.-132-125G>T
NM_001368144.1:c.-132-125G>T NP_001355073.1:n.-132-125G>T
NM_001128590.4:c.203-144G>T NP_001122062.3:n.203-144G>T
NM_001368143.2:c.-132-125G>T NP_001355072.1:n.-132-125G>T
NM_001368144.2:c.-132-125G>T NP_001355073.1:n.-132-125G>T