Canonical Allele Identifier: CA2499218208

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 1119995
• ClinVar RCV Id: RCV001449920
• dbSNP Id: rs2151874375

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040099dup , CM000668.2:g.32040099dup	GRCh38
NC_000006.11:g.32007876dup , CM000668.1:g.32007876dup	GRCh37
NC_000006.10:g.32115855dup	NCBI36
NG_007941.2:g.6792dup
NG_008337.2:g.74276dup
NG_007941.3:g.6795dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.833dup MANE Select	ENSP00000496625.1:p.Glu279GlyfsTer17
ENST00000418967.6:c.833dup	ENSP00000408860.2:p.Glu279GlyfsTer17
ENST00000435122.3:c.743dup	ENSP00000415043.2:p.Glu249GlyfsTer17
ENST00000479074.5:n.891dup
ENST00000479730.5:n.949dup
ENST00000483041.5:n.1002dup
ENST00000486063.5:n.918+264dup
NM_000500.7:c.833dup	NP_000491.4:p.Glu279GlyfsTer17
NM_001128590.3:c.743dup	NP_001122062.3:p.Glu249GlyfsTer17
XM_011514314.1:c.428dup	XP_011512616.1:p.Glu144GlyfsTer17
NM_000500.9:c.833dup MANE Select	NP_000491.4:p.Glu279GlyfsTer17
NM_001368143.1:c.428dup	NP_001355072.1:p.Glu144GlyfsTer17
NM_001368144.1:c.428dup	NP_001355073.1:p.Glu144GlyfsTer17
NM_001128590.4:c.743dup	NP_001122062.3:p.Glu249GlyfsTer17
NM_001368143.2:c.428dup	NP_001355072.1:p.Glu144GlyfsTer17
NM_001368144.2:c.428dup	NP_001355073.1:p.Glu144GlyfsTer17