Canonical Allele Identifier: CA199206

Gene: ACO2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41515858G>A , CM000684.2:g.41515858G>A	GRCh38
NC_000022.10:g.41911862G>A , CM000684.1:g.41911862G>A	GRCh37
NC_000022.9:g.40241808G>A	NCBI36
NG_032143.1:g.51734G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216254.9:c.776G>A MANE Select	ENSP00000216254.4:p.Gly259Asp
ENST00000466237.2:c.776G>A	ENSP00000504719.1:p.Gly259Asp
ENST00000676664.1:c.839G>A	ENSP00000503709.1:n.839G>A
ENST00000676714.1:c.*694G>A	ENSP00000504699.1:n.*694G>A
ENST00000676748.1:c.677G>A	ENSP00000503371.1:p.Gly226Asp
ENST00000676792.1:c.611G>A	ENSP00000503590.1:p.Gly204Asp
ENST00000676822.1:n.1024G>A
ENST00000676959.1:c.776G>A	ENSP00000504377.1:p.Gly259Asp
ENST00000677007.1:c.776G>A	ENSP00000504634.1:p.Gly259Asp
ENST00000677153.1:c.677G>A	ENSP00000504453.1:p.Gly226Asp
ENST00000677427.1:n.806G>A
ENST00000677516.1:c.776G>A	ENSP00000503370.1:p.Gly259Asp
ENST00000677532.1:c.800G>A	ENSP00000503471.1:p.Gly267Asp
ENST00000677554.1:c.776G>A	ENSP00000504513.1:p.Gly259Asp
ENST00000677698.1:c.1149G>A
ENST00000678269.1:c.776G>A	ENSP00000504150.1:p.Gly259Asp
ENST00000678394.1:n.953G>A
ENST00000678454.1:n.806G>A
ENST00000678600.1:n.817G>A
ENST00000678688.1:c.776G>A	ENSP00000503990.1:p.Gly259Asp
ENST00000678788.1:c.776G>A	ENSP00000504684.1:p.Gly259Asp
ENST00000678819.1:c.*639G>A	ENSP00000503199.1:n.*639G>A
ENST00000679264.1:n.805G>A
ENST00000679311.1:n.806G>A
ENST00000679320.1:c.776G>A	ENSP00000504780.1:p.Gly259Asp
ENST00000216254.8:c.776G>A	ENSP00000216254.4:p.Gly259Asp
ENST00000396512.3:c.776G>A	ENSP00000379769.3:p.Gly259Asp
ENST00000466237.1:n.93G>A
ENST00000478010.1:n.379G>A
ENST00000481310.1:n.115G>A
NM_001098.2:c.776G>A	NP_001089.1:p.Gly259Asp
XM_017028812.1:c.677G>A	XP_016884301.1:p.Gly226Asp
XM_024452250.1:c.776G>A	XP_024308018.1:p.Gly259Asp
NM_001098.3:c.776G>A MANE Select	NP_001089.1:p.Gly259Asp