Canonical Allele Identifier: CA2695206189

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041045dup , CM000668.2:g.32041045dup	GRCh38
NC_000006.11:g.32008822dup , CM000668.1:g.32008822dup	GRCh37
NC_000006.10:g.32116801dup	NCBI36
NG_007941.2:g.7738dup
NG_008337.2:g.73333dup
NG_007941.3:g.7741dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1399dup MANE Select	ENSP00000496625.1:p.His467ProfsTer?
ENST00000418967.6:c.1399dup	ENSP00000408860.2:p.His467ProfsTer?
ENST00000435122.3:c.1309dup	ENSP00000415043.2:p.His437ProfsTer?
ENST00000479074.5:n.1540dup
ENST00000479730.5:n.1515dup
ENST00000483041.5:n.1568dup
ENST00000486063.5:n.1378dup
NM_000500.7:c.1399dup	NP_000491.4:p.His467ProfsTer?
NM_001128590.3:c.1309dup	NP_001122062.3:p.His437ProfsTer?
XM_011514314.1:c.994dup	XP_011512616.1:p.His332ProfsTer?
NM_000500.9:c.1399dup MANE Select	NP_000491.4:p.His467ProfsTer?
NM_001368143.1:c.994dup	NP_001355072.1:p.His332ProfsTer?
NM_001368144.1:c.994dup	NP_001355073.1:p.His332ProfsTer?
NM_001128590.4:c.1309dup	NP_001122062.3:p.His437ProfsTer?
NM_001368143.2:c.994dup	NP_001355072.1:p.His332ProfsTer?
NM_001368144.2:c.994dup	NP_001355073.1:p.His332ProfsTer?