Canonical Allele Identifier: CA2678088523
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32038916-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038916C>G , CM000668.2:g.32038916C>G GRCh38
NC_000006.11:g.32006693C>G , CM000668.1:g.32006693C>G GRCh37
NC_000006.10:g.32114672C>G NCBI36
NG_007941.2:g.5609C>G
NG_007941.3:g.5612C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.292+105C>G MANE Select ENSP00000496625.1:n.292+105C>G
ENST00000418967.6:c.292+105C>G ENSP00000408860.2:n.292+105C>G
ENST00000435122.3:c.203-178C>G ENSP00000415043.2:n.203-178C>G
ENST00000464325.5:n.229+105C>G
ENST00000466779.5:c.292+105C>G ENSP00000417321.1:n.292+105C>G
ENST00000466879.5:n.166C>G
ENST00000469053.5:c.203-159C>G ENSP00000418104.1:n.203-159C>G
ENST00000471671.4:c.292+105C>G ENSP00000418561.1:n.292+105C>G
ENST00000478281.5:c.292+105C>G ENSP00000419572.1:n.292+105C>G
ENST00000479074.5:n.350+105C>G
ENST00000479730.5:n.447+105C>G
ENST00000480027.1:n.450C>G
ENST00000483041.5:n.442+105C>G
ENST00000486063.5:n.472+105C>G
ENST00000488465.1:n.300+105C>G
NM_000500.7:c.292+105C>G NP_000491.4:n.292+105C>G
NM_001128590.3:c.203-178C>G NP_001122062.3:n.203-178C>G
XM_011514314.1:c.-133+105C>G XP_011512616.1:n.-133+105C>G
NM_000500.9:c.292+105C>G MANE Select NP_000491.4:n.292+105C>G
NM_001368143.1:c.-133+105C>G NP_001355072.1:n.-133+105C>G
NM_001368144.1:c.-132-159C>G NP_001355073.1:n.-132-159C>G
NM_001128590.4:c.203-178C>G NP_001122062.3:n.203-178C>G
NM_001368143.2:c.-133+105C>G NP_001355072.1:n.-133+105C>G
NM_001368144.2:c.-132-159C>G NP_001355073.1:n.-132-159C>G