Canonical Allele Identifier: CA2573140180

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 1687249
• ClinVar RCV Id: RCV002250931
• dbSNP Id: rs2151872060

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039234del , CM000668.2:g.32039234del	GRCh38
NC_000006.11:g.32007011del , CM000668.1:g.32007011del	GRCh37
NC_000006.10:g.32114990del	NCBI36
NG_007941.2:g.5927del
NG_008337.2:g.75143del
NG_007941.3:g.5930del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.433del MANE Select	ENSP00000496625.1:p.Gln145ArgfsTer7
ENST00000418967.6:c.433del	ENSP00000408860.2:p.Gln145ArgfsTer7
ENST00000435122.3:c.343del	ENSP00000415043.2:p.Gln115ArgfsTer7
ENST00000462278.1:n.21del
ENST00000464325.5:n.354del
ENST00000466779.5:c.*125del	ENSP00000417321.1:n.*125del
ENST00000466879.5:n.484del
ENST00000469053.5:c.*125del	ENSP00000418104.1:n.*125del
ENST00000471671.4:c.433del	ENSP00000418561.1:p.Gln145ArgfsTer7
ENST00000478281.5:c.466del	ENSP00000419572.1:p.Gln156ArgfsTer7
ENST00000479074.5:n.491del
ENST00000479730.5:n.588del
ENST00000483041.5:n.602del
ENST00000486063.5:n.613del
ENST00000488465.1:n.441del
NM_000500.7:c.433del	NP_000491.4:p.Gln145ArgfsTer7
NM_001128590.3:c.343del	NP_001122062.3:p.Gln115ArgfsTer7
XM_011514314.1:c.28del	XP_011512616.1:p.Gln10ArgfsTer7
NM_000500.9:c.433del MANE Select	NP_000491.4:p.Gln145ArgfsTer7
NM_001368143.1:c.28del	NP_001355072.1:p.Gln10ArgfsTer7
NM_001368144.1:c.28del	NP_001355073.1:p.Gln10ArgfsTer7
NM_001128590.4:c.343del	NP_001122062.3:p.Gln115ArgfsTer7
NM_001368143.2:c.28del	NP_001355072.1:p.Gln10ArgfsTer7
NM_001368144.2:c.28del	NP_001355073.1:p.Gln10ArgfsTer7