Canonical Allele Identifier: CA2678088299
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32039349-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039349T>G , CM000668.2:g.32039349T>G GRCh38
NC_000006.11:g.32007126T>G , CM000668.1:g.32007126T>G GRCh37
NC_000006.10:g.32115105T>G NCBI36
NG_007941.2:g.6042T>G
NG_008337.2:g.75026A>C
NG_007941.3:g.6045T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.448-7T>G MANE Select ENSP00000496625.1:n.448-7T>G
ENST00000418967.6:c.448-7T>G ENSP00000408860.2:n.448-7T>G
ENST00000435122.3:c.358-7T>G ENSP00000415043.2:n.358-7T>G
ENST00000462278.1:n.36-7T>G
ENST00000464325.5:n.369-7T>G
ENST00000466779.5:c.*140-7T>G ENSP00000417321.1:n.*140-7T>G
ENST00000466879.5:n.499-7T>G
ENST00000469053.5:c.*140-7T>G ENSP00000418104.1:n.*140-7T>G
ENST00000471671.4:c.448-7T>G ENSP00000418561.1:n.448-7T>G
ENST00000478281.5:c.481-7T>G ENSP00000419572.1:n.481-7T>G
ENST00000479074.5:n.506-7T>G
ENST00000479730.5:n.603-7T>G
ENST00000483041.5:n.617-7T>G
ENST00000486063.5:n.628-7T>G
ENST00000488465.1:n.456-7T>G
NM_000500.7:c.448-7T>G NP_000491.4:n.448-7T>G
NM_001128590.3:c.358-7T>G NP_001122062.3:n.358-7T>G
XM_011514314.1:c.43-7T>G XP_011512616.1:n.43-7T>G
NM_000500.9:c.448-7T>G MANE Select NP_000491.4:n.448-7T>G
NM_001368143.1:c.43-7T>G NP_001355072.1:n.43-7T>G
NM_001368144.1:c.43-7T>G NP_001355073.1:n.43-7T>G
NM_001128590.4:c.358-7T>G NP_001122062.3:n.358-7T>G
NM_001368143.2:c.43-7T>G NP_001355072.1:n.43-7T>G
NM_001368144.2:c.43-7T>G NP_001355073.1:n.43-7T>G