Canonical Allele Identifier: CA2695206166

Gene: CYP21A2

Linked Data

• dbSNP Id: rs2151873246

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039635dup , CM000668.2:g.32039635dup	GRCh38
NC_000006.11:g.32007412dup , CM000668.1:g.32007412dup	GRCh37
NC_000006.10:g.32115391dup	NCBI36
NG_007941.2:g.6328dup
NG_008337.2:g.74741dup
NG_007941.3:g.6331dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.639dup MANE Select	ENSP00000496625.1:p.Pro214SerfsTer?
ENST00000418967.6:c.639dup	ENSP00000408860.2:p.Pro214SerfsTer?
ENST00000435122.3:c.549dup	ENSP00000415043.2:p.Pro184SerfsTer?
ENST00000462278.1:n.227dup
ENST00000464325.5:n.560dup
ENST00000466779.5:c.*331dup	ENSP00000417321.1:n.*331dup
ENST00000466879.5:n.690dup
ENST00000469053.5:c.*331dup	ENSP00000418104.1:n.*331dup
ENST00000479074.5:n.697dup
ENST00000479730.5:n.755dup
ENST00000483041.5:n.808dup
ENST00000486063.5:n.819dup
NM_000500.7:c.639dup	NP_000491.4:p.Pro214SerfsTer?
NM_001128590.3:c.549dup	NP_001122062.3:p.Pro184SerfsTer?
XM_011514314.1:c.234dup	XP_011512616.1:p.Pro79SerfsTer?
NM_000500.9:c.639dup MANE Select	NP_000491.4:p.Pro214SerfsTer?
NM_001368143.1:c.234dup	NP_001355072.1:p.Pro79SerfsTer?
NM_001368144.1:c.234dup	NP_001355073.1:p.Pro79SerfsTer?
NM_001128590.4:c.549dup	NP_001122062.3:p.Pro184SerfsTer?
NM_001368143.2:c.234dup	NP_001355072.1:p.Pro79SerfsTer?
NM_001368144.2:c.234dup	NP_001355073.1:p.Pro79SerfsTer?