Canonical Allele Identifier: CA2678088399
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32038815-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038815A>G , CM000668.2:g.32038815A>G GRCh38
NC_000006.11:g.32006592A>G , CM000668.1:g.32006592A>G GRCh37
NC_000006.10:g.32114571A>G NCBI36
NG_007941.2:g.5508A>G
NG_007941.3:g.5511A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.292+4A>G MANE Select ENSP00000496625.1:n.292+4A>G
ENST00000418967.6:c.292+4A>G ENSP00000408860.2:n.292+4A>G
ENST00000435122.3:c.202+191A>G ENSP00000415043.2:n.202+191A>G
ENST00000464325.5:n.229+4A>G
ENST00000466779.5:c.292+4A>G ENSP00000417321.1:n.292+4A>G
ENST00000466879.5:n.65A>G
ENST00000469053.5:c.202+191A>G ENSP00000418104.1:n.202+191A>G
ENST00000471671.4:c.292+4A>G ENSP00000418561.1:n.292+4A>G
ENST00000478281.5:c.292+4A>G ENSP00000419572.1:n.292+4A>G
ENST00000479074.5:n.350+4A>G
ENST00000479730.5:n.447+4A>G
ENST00000480027.1:n.349A>G
ENST00000483041.5:n.442+4A>G
ENST00000486063.5:n.472+4A>G
ENST00000488465.1:n.300+4A>G
NM_000500.7:c.292+4A>G NP_000491.4:n.292+4A>G
NM_001128590.3:c.202+191A>G NP_001122062.3:n.202+191A>G
XM_011514314.1:c.-133+4A>G XP_011512616.1:n.-133+4A>G
NM_000500.9:c.292+4A>G MANE Select NP_000491.4:n.292+4A>G
NM_001368143.1:c.-133+4A>G NP_001355072.1:n.-133+4A>G
NM_001368144.1:c.-133+191A>G NP_001355073.1:n.-133+191A>G
NM_001128590.4:c.202+191A>G NP_001122062.3:n.202+191A>G
NM_001368143.2:c.-133+4A>G NP_001355072.1:n.-133+4A>G
NM_001368144.2:c.-133+191A>G NP_001355073.1:n.-133+191A>G