Canonical Allele Identifier: CA10257491

Gene: ACO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41517581T>A , CM000684.2:g.41517581T>A	GRCh38
NC_000022.10:g.41913585T>A , CM000684.1:g.41913585T>A	GRCh37
NC_000022.9:g.40243531T>A	NCBI36
NG_032143.1:g.53457T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001098.3:c.890T>A MANE Select	NP_001089.1:p.Phe297Tyr
ENST00000216254.9:c.890T>A MANE Select	ENSP00000216254.4:p.Phe297Tyr
NM_001098.2:c.890T>A	NP_001089.1:p.Phe297Tyr
ENST00000216254.8:c.890T>A	ENSP00000216254.4:p.Phe297Tyr
ENST00000396512.3:c.965T>A	ENSP00000379769.3:p.Phe322Tyr
ENST00000466237.1:n.207T>A
ENST00000466237.2:c.890T>A	ENSP00000504719.1:p.Phe297Tyr
ENST00000676664.1:c.953T>A	ENSP00000503709.1:n.953T>A
ENST00000676714.1:c.*808T>A	ENSP00000504699.1:n.*808T>A
ENST00000676748.1:c.791T>A	ENSP00000503371.1:p.Phe264Tyr
ENST00000676792.1:c.725T>A	ENSP00000503590.1:p.Phe242Tyr
ENST00000676822.1:n.1138T>A
ENST00000676959.1:c.890T>A	ENSP00000504377.1:p.Phe297Tyr
ENST00000677007.1:c.890T>A	ENSP00000504634.1:p.Phe297Tyr
ENST00000677153.1:c.791T>A	ENSP00000504453.1:p.Phe264Tyr
ENST00000677427.1:n.920T>A
ENST00000677492.1:n.1000T>A
ENST00000677516.1:c.890T>A	ENSP00000503370.1:p.Phe297Tyr
ENST00000677532.1:c.914T>A	ENSP00000503471.1:p.Phe305Tyr
ENST00000677554.1:c.890T>A	ENSP00000504513.1:p.Phe297Tyr
ENST00000677698.1:c.1263T>A
ENST00000678269.1:c.965T>A	ENSP00000504150.1:p.Phe322Tyr
ENST00000678394.1:n.1067T>A
ENST00000678454.1:n.920T>A
ENST00000678600.1:n.931T>A
ENST00000678688.1:c.*142-16T>A	ENSP00000503990.1:n.*142-16T>A
ENST00000678788.1:c.890T>A	ENSP00000504684.1:p.Phe297Tyr
ENST00000678819.1:c.*753T>A	ENSP00000503199.1:n.*753T>A
ENST00000679264.1:n.1038-16T>A
ENST00000679311.1:n.920T>A
ENST00000679320.1:c.890T>A	ENSP00000504780.1:p.Phe297Tyr
XM_017028812.1:c.791T>A	XP_016884301.1:p.Phe264Tyr
XM_024452250.1:c.890T>A	XP_024308018.1:p.Phe297Tyr