Canonical Allele Identifier: CA2678088994
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32039080-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039080A>G , CM000668.2:g.32039080A>G GRCh38
NC_000006.11:g.32006857A>G , CM000668.1:g.32006857A>G GRCh37
NC_000006.10:g.32114836A>G NCBI36
NG_007941.2:g.5773A>G
NG_007941.3:g.5776A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.293-14A>G MANE Select ENSP00000496625.1:n.293-14A>G
ENST00000418967.6:c.293-14A>G ENSP00000408860.2:n.293-14A>G
ENST00000435122.3:c.203-14A>G ENSP00000415043.2:n.203-14A>G
ENST00000464325.5:n.230-30A>G
ENST00000466779.5:c.298A>G ENSP00000417321.1:p.Thr100Ala
ENST00000466879.5:n.330A>G
ENST00000469053.5:c.208A>G ENSP00000418104.1:p.Thr70Ala
ENST00000471671.4:c.293-14A>G ENSP00000418561.1:n.293-14A>G
ENST00000478281.5:c.312A>G ENSP00000419572.1:p.Pro104=
ENST00000479074.5:n.351-14A>G
ENST00000479730.5:n.448-14A>G
ENST00000480027.1:n.614A>G
ENST00000483041.5:n.448A>G
ENST00000486063.5:n.473-14A>G
ENST00000488465.1:n.301-14A>G
NM_000500.7:c.293-14A>G NP_000491.4:n.293-14A>G
NM_001128590.3:c.203-14A>G NP_001122062.3:n.203-14A>G
XM_011514314.1:c.-127A>G XP_011512616.1:n.-127A>G
NM_000500.9:c.293-14A>G MANE Select NP_000491.4:n.293-14A>G
NM_001368143.1:c.-127A>G NP_001355072.1:n.-127A>G
NM_001368144.1:c.-127A>G NP_001355073.1:n.-127A>G
NM_001128590.4:c.203-14A>G NP_001122062.3:n.203-14A>G
NM_001368143.2:c.-127A>G NP_001355072.1:n.-127A>G
NM_001368144.2:c.-127A>G NP_001355073.1:n.-127A>G