Canonical Allele Identifier: CA10257327

Gene: ACO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41507892G>A , CM000684.2:g.41507892G>A	GRCh38
NC_000022.10:g.41903896G>A , CM000684.1:g.41903896G>A	GRCh37
NC_000022.9:g.40233842G>A	NCBI36
NG_032143.1:g.43768G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216254.9:c.275G>A MANE Select	ENSP00000216254.4:p.Arg92Gln
ENST00000466237.2:c.275G>A	ENSP00000504719.1:p.Arg92Gln
ENST00000676664.1:c.221G>A	ENSP00000503709.1:p.Arg74Gln
ENST00000676714.1:c.*193G>A	ENSP00000504699.1:n.*193G>A
ENST00000676748.1:c.176G>A	ENSP00000503371.1:p.Arg59Gln
ENST00000676792.1:c.110G>A	ENSP00000503590.1:p.Arg37Gln
ENST00000676822.1:n.523G>A
ENST00000676959.1:c.275G>A	ENSP00000504377.1:p.Arg92Gln
ENST00000677007.1:c.275G>A	ENSP00000504634.1:p.Arg92Gln
ENST00000677153.1:c.176G>A	ENSP00000504453.1:p.Arg59Gln
ENST00000677427.1:n.305G>A
ENST00000677516.1:c.275G>A	ENSP00000503370.1:p.Arg92Gln
ENST00000677532.1:c.299G>A	ENSP00000503471.1:p.Arg100Gln
ENST00000677554.1:c.275G>A	ENSP00000504513.1:p.Arg92Gln
ENST00000677698.1:c.648G>A
ENST00000678269.1:c.275G>A	ENSP00000504150.1:p.Arg92Gln
ENST00000678394.1:n.452G>A
ENST00000678454.1:n.305G>A
ENST00000678600.1:n.316G>A
ENST00000678688.1:c.275G>A	ENSP00000503990.1:p.Arg92Gln
ENST00000678788.1:c.275G>A	ENSP00000504684.1:p.Arg92Gln
ENST00000678819.1:c.*138G>A	ENSP00000503199.1:n.*138G>A
ENST00000679264.1:n.304G>A
ENST00000679311.1:n.305G>A
ENST00000679320.1:c.275G>A	ENSP00000504780.1:p.Arg92Gln
ENST00000216254.8:c.275G>A	ENSP00000216254.4:p.Arg92Gln
ENST00000396512.3:c.275G>A	ENSP00000379769.3:p.Arg92Gln
ENST00000471094.1:n.451G>A
ENST00000482208.1:n.55G>A
NM_001098.2:c.275G>A	NP_001089.1:p.Arg92Gln
XM_017028812.1:c.176G>A	XP_016884301.1:p.Arg59Gln
XM_024452250.1:c.275G>A	XP_024308018.1:p.Arg92Gln
NM_001098.3:c.275G>A MANE Select	NP_001089.1:p.Arg92Gln