Canonical Allele Identifier: CA363502456
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039356C>G , CM000668.2:g.32039356C>G GRCh38
NC_000006.11:g.32007133C>G , CM000668.1:g.32007133C>G GRCh37
NC_000006.10:g.32115112C>G NCBI36
NG_007941.2:g.6049C>G
NG_008337.2:g.75019G>C
NG_007941.3:g.6052C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.448C>G MANE Select ENSP00000496625.1:p.Arg150Gly
ENST00000418967.6:c.448C>G ENSP00000408860.2:p.Arg150Gly
ENST00000435122.3:c.358C>G ENSP00000415043.2:p.Arg120Gly
ENST00000462278.1:n.36C>G
ENST00000464325.5:n.369C>G
ENST00000466779.5:c.*140C>G ENSP00000417321.1:n.*140C>G
ENST00000466879.5:n.499C>G
ENST00000469053.5:c.*140C>G ENSP00000418104.1:n.*140C>G
ENST00000471671.4:c.448C>G ENSP00000418561.1:p.Arg150Gly
ENST00000478281.5:c.481C>G ENSP00000419572.1:p.Arg161Gly
ENST00000479074.5:n.506C>G
ENST00000479730.5:n.603C>G
ENST00000483041.5:n.617C>G
ENST00000486063.5:n.628C>G
ENST00000488465.1:n.456C>G
NM_000500.7:c.448C>G NP_000491.4:p.Arg150Gly
NM_001128590.3:c.358C>G NP_001122062.3:p.Arg120Gly
XM_011514314.1:c.43C>G XP_011512616.1:p.Arg15Gly
NM_000500.9:c.448C>G MANE Select NP_000491.4:p.Arg150Gly
NM_001368143.1:c.43C>G NP_001355072.1:p.Arg15Gly
NM_001368144.1:c.43C>G NP_001355073.1:p.Arg15Gly
NM_001128590.4:c.358C>G NP_001122062.3:p.Arg120Gly
NM_001368143.2:c.43C>G NP_001355072.1:p.Arg15Gly
NM_001368144.2:c.43C>G NP_001355073.1:p.Arg15Gly