Canonical Allele Identifier: CA2678088450
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32038860-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038860A>G , CM000668.2:g.32038860A>G GRCh38
NC_000006.11:g.32006637A>G , CM000668.1:g.32006637A>G GRCh37
NC_000006.10:g.32114616A>G NCBI36
NG_007941.2:g.5553A>G
NG_007941.3:g.5556A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.292+49A>G MANE Select ENSP00000496625.1:n.292+49A>G
ENST00000418967.6:c.292+49A>G ENSP00000408860.2:n.292+49A>G
ENST00000435122.3:c.203-234A>G ENSP00000415043.2:n.203-234A>G
ENST00000464325.5:n.229+49A>G
ENST00000466779.5:c.292+49A>G ENSP00000417321.1:n.292+49A>G
ENST00000466879.5:n.110A>G
ENST00000469053.5:c.203-215A>G ENSP00000418104.1:n.203-215A>G
ENST00000471671.4:c.292+49A>G ENSP00000418561.1:n.292+49A>G
ENST00000478281.5:c.292+49A>G ENSP00000419572.1:n.292+49A>G
ENST00000479074.5:n.350+49A>G
ENST00000479730.5:n.447+49A>G
ENST00000480027.1:n.394A>G
ENST00000483041.5:n.442+49A>G
ENST00000486063.5:n.472+49A>G
ENST00000488465.1:n.300+49A>G
NM_000500.7:c.292+49A>G NP_000491.4:n.292+49A>G
NM_001128590.3:c.203-234A>G NP_001122062.3:n.203-234A>G
XM_011514314.1:c.-133+49A>G XP_011512616.1:n.-133+49A>G
NM_000500.9:c.292+49A>G MANE Select NP_000491.4:n.292+49A>G
NM_001368143.1:c.-133+49A>G NP_001355072.1:n.-133+49A>G
NM_001368144.1:c.-132-215A>G NP_001355073.1:n.-132-215A>G
NM_001128590.4:c.203-234A>G NP_001122062.3:n.203-234A>G
NM_001368143.2:c.-133+49A>G NP_001355072.1:n.-133+49A>G
NM_001368144.2:c.-132-215A>G NP_001355073.1:n.-132-215A>G