Canonical Allele Identifier: CA363506814
Gene: CYP21A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1345040
ClinVar RCV Id: RCV002049750
dbSNP Id: rs2151874388

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040101G>A , CM000668.2:g.32040101G>A GRCh38
NC_000006.11:g.32007878G>A , CM000668.1:g.32007878G>A GRCh37
NC_000006.10:g.32115857G>A NCBI36
NG_007941.2:g.6794G>A
NG_008337.2:g.74274C>T
NG_007941.3:g.6797G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.835G>A MANE Select ENSP00000496625.1:p.Glu279Lys
ENST00000418967.6:c.835G>A ENSP00000408860.2:p.Glu279Lys
ENST00000435122.3:c.745G>A ENSP00000415043.2:p.Glu249Lys
ENST00000479074.5:n.893G>A
ENST00000479730.5:n.951G>A
ENST00000483041.5:n.1004G>A
ENST00000486063.5:n.918+266G>A
NM_000500.7:c.835G>A NP_000491.4:p.Glu279Lys
NM_001128590.3:c.745G>A NP_001122062.3:p.Glu249Lys
XM_011514314.1:c.430G>A XP_011512616.1:p.Glu144Lys
NM_000500.9:c.835G>A MANE Select NP_000491.4:p.Glu279Lys
NM_001368143.1:c.430G>A NP_001355072.1:p.Glu144Lys
NM_001368144.1:c.430G>A NP_001355073.1:p.Glu144Lys
NM_001128590.4:c.745G>A NP_001122062.3:p.Glu249Lys
NM_001368143.2:c.430G>A NP_001355072.1:p.Glu144Lys
NM_001368144.2:c.430G>A NP_001355073.1:p.Glu144Lys