Canonical Allele Identifier: CA363511267
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040693G>T , CM000668.2:g.32040693G>T GRCh38
NC_000006.11:g.32008470G>T , CM000668.1:g.32008470G>T GRCh37
NC_000006.10:g.32116449G>T NCBI36
NG_007941.2:g.7386G>T
NG_008337.2:g.73682C>A
NG_007941.3:g.7389G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.1144G>T MANE Select ENSP00000496625.1:p.Gly382Cys
ENST00000418967.6:c.1144G>T ENSP00000408860.2:p.Gly382Cys
ENST00000435122.3:c.1054G>T ENSP00000415043.2:p.Gly352Cys
ENST00000479074.5:n.1285G>T
ENST00000479730.5:n.1260G>T
ENST00000483041.5:n.1313G>T
ENST00000486063.5:n.1123G>T
NM_000500.7:c.1144G>T NP_000491.4:p.Gly382Cys
NM_001128590.3:c.1054G>T NP_001122062.3:p.Gly352Cys
XM_011514314.1:c.739G>T XP_011512616.1:p.Gly247Cys
NM_000500.9:c.1144G>T MANE Select NP_000491.4:p.Gly382Cys
NM_001368143.1:c.739G>T NP_001355072.1:p.Gly247Cys
NM_001368144.1:c.739G>T NP_001355073.1:p.Gly247Cys
NM_001128590.4:c.1054G>T NP_001122062.3:p.Gly352Cys
NM_001368143.2:c.739G>T NP_001355072.1:p.Gly247Cys
NM_001368144.2:c.739G>T NP_001355073.1:p.Gly247Cys