Canonical Allele Identifier: CA566693837
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs1174117188
gnomAD v2: 6-32006601-G-A
gnomAD v4: 6-32038824-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038824G>A , CM000668.2:g.32038824G>A GRCh38
NC_000006.11:g.32006601G>A , CM000668.1:g.32006601G>A GRCh37
NC_000006.10:g.32114580G>A NCBI36
NG_007941.2:g.5517G>A
NG_007941.3:g.5520G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.292+13G>A MANE Select ENSP00000496625.1:n.292+13G>A
ENST00000418967.6:c.292+13G>A ENSP00000408860.2:n.292+13G>A
ENST00000435122.3:c.202+200G>A ENSP00000415043.2:n.202+200G>A
ENST00000464325.5:n.229+13G>A
ENST00000466779.5:c.292+13G>A ENSP00000417321.1:n.292+13G>A
ENST00000466879.5:n.74G>A
ENST00000469053.5:c.202+200G>A ENSP00000418104.1:n.202+200G>A
ENST00000471671.4:c.292+13G>A ENSP00000418561.1:n.292+13G>A
ENST00000478281.5:c.292+13G>A ENSP00000419572.1:n.292+13G>A
ENST00000479074.5:n.350+13G>A
ENST00000479730.5:n.447+13G>A
ENST00000480027.1:n.358G>A
ENST00000483041.5:n.442+13G>A
ENST00000486063.5:n.472+13G>A
ENST00000488465.1:n.300+13G>A
NM_000500.7:c.292+13G>A NP_000491.4:n.292+13G>A
NM_001128590.3:c.202+200G>A NP_001122062.3:n.202+200G>A
XM_011514314.1:c.-133+13G>A XP_011512616.1:n.-133+13G>A
NM_000500.9:c.292+13G>A MANE Select NP_000491.4:n.292+13G>A
NM_001368143.1:c.-133+13G>A NP_001355072.1:n.-133+13G>A
NM_001368144.1:c.-133+200G>A NP_001355073.1:n.-133+200G>A
NM_001128590.4:c.202+200G>A NP_001122062.3:n.202+200G>A
NM_001368143.2:c.-133+13G>A NP_001355072.1:n.-133+13G>A
NM_001368144.2:c.-133+200G>A NP_001355073.1:n.-133+200G>A