Canonical Allele Identifier: CA449818734
Gene: CYP21A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.32008203G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040426G>A , CM000668.2:g.32040426G>A GRCh38
NC_000006.11:g.32008203G>A , CM000668.1:g.32008203G>A GRCh37
NC_000006.10:g.32116182G>A NCBI36
NG_007941.2:g.7119G>A
NG_008337.2:g.73949C>T
NG_007941.3:g.7122G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.960G>A MANE Select ENSP00000496625.1:p.Glu320=
ENST00000418967.6:c.960G>A ENSP00000408860.2:p.Glu320=
ENST00000435122.3:c.870G>A ENSP00000415043.2:p.Glu290=
ENST00000479074.5:n.1018G>A
ENST00000479730.5:n.1076G>A
ENST00000483041.5:n.1129G>A
ENST00000486063.5:n.939G>A
NM_000500.7:c.960G>A NP_000491.4:p.Glu320=
NM_001128590.3:c.870G>A NP_001122062.3:p.Glu290=
XM_011514314.1:c.555G>A XP_011512616.1:p.Glu185=
NM_000500.9:c.960G>A MANE Select NP_000491.4:p.Glu320=
NM_001368143.1:c.555G>A NP_001355072.1:p.Glu185=
NM_001368144.1:c.555G>A NP_001355073.1:p.Glu185=
NM_001128590.4:c.870G>A NP_001122062.3:p.Glu290=
NM_001368143.2:c.555G>A NP_001355072.1:p.Glu185=
NM_001368144.2:c.555G>A NP_001355073.1:p.Glu185=