Canonical Allele Identifier: CA2573140179

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 1345037
• ClinVar RCV Id: RCV002034882
• dbSNP Id: rs2151871966

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039206del , CM000668.2:g.32039206del	GRCh38
NC_000006.11:g.32006983del , CM000668.1:g.32006983del	GRCh37
NC_000006.10:g.32114962del	NCBI36
NG_007941.2:g.5899del
NG_008337.2:g.75170del
NG_007941.3:g.5902del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.405del MANE Select	ENSP00000496625.1:p.Met136TrpfsTer8
ENST00000418967.6:c.405del	ENSP00000408860.2:p.Met136TrpfsTer8
ENST00000435122.3:c.315del	ENSP00000415043.2:p.Met106TrpfsTer8
ENST00000464325.5:n.326del
ENST00000466779.5:c.*97del	ENSP00000417321.1:n.*97del
ENST00000466879.5:n.456del
ENST00000469053.5:c.*97del	ENSP00000418104.1:n.*97del
ENST00000471671.4:c.405del	ENSP00000418561.1:p.Met136TrpfsTer8
ENST00000478281.5:c.438del	ENSP00000419572.1:p.Met147TrpfsTer8
ENST00000479074.5:n.463del
ENST00000479730.5:n.560del
ENST00000483041.5:n.574del
ENST00000486063.5:n.585del
ENST00000488465.1:n.413del
NM_000500.7:c.405del	NP_000491.4:p.Met136TrpfsTer8
NM_001128590.3:c.315del	NP_001122062.3:p.Met106TrpfsTer8
XM_011514314.1:c.-1del	XP_011512616.1:n.-1del
NM_000500.9:c.405del MANE Select	NP_000491.4:p.Met136TrpfsTer8
NM_001368143.1:c.-1del	NP_001355072.1:n.-1del
NM_001368144.1:c.-1del	NP_001355073.1:n.-1del
NM_001128590.4:c.315del	NP_001122062.3:p.Met106TrpfsTer8
NM_001368143.2:c.-1del	NP_001355072.1:n.-1del
NM_001368144.2:c.-1del	NP_001355073.1:n.-1del