Canonical Allele Identifier: CA324564136

Gene: ACO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41507815G>A , CM000684.2:g.41507815G>A	GRCh38
NC_000022.10:g.41903819G>A , CM000684.1:g.41903819G>A	GRCh37
NC_000022.9:g.40233765G>A	NCBI36
NG_032143.1:g.43691G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001098.3:c.198G>A MANE Select	NP_001089.1:p.Ser66=
ENST00000216254.9:c.198G>A MANE Select	ENSP00000216254.4:p.Ser66=
NM_001098.2:c.198G>A	NP_001089.1:p.Ser66=
ENST00000216254.8:c.198G>A	ENSP00000216254.4:p.Ser66=
ENST00000396512.3:c.198G>A	ENSP00000379769.3:p.Ser66=
ENST00000466237.2:c.198G>A	ENSP00000504719.1:p.Ser66=
ENST00000471094.1:n.374G>A
ENST00000676664.1:c.144G>A	ENSP00000503709.1:p.Ser48=
ENST00000676714.1:c.*116G>A	ENSP00000504699.1:n.*116G>A
ENST00000676748.1:c.99G>A	ENSP00000503371.1:p.Ser33=
ENST00000676792.1:c.33G>A	ENSP00000503590.1:p.Ser11=
ENST00000676822.1:n.446G>A
ENST00000676959.1:c.198G>A	ENSP00000504377.1:p.Ser66=
ENST00000677007.1:c.198G>A	ENSP00000504634.1:p.Ser66=
ENST00000677153.1:c.99G>A	ENSP00000504453.1:p.Ser33=
ENST00000677427.1:n.228G>A
ENST00000677516.1:c.198G>A	ENSP00000503370.1:p.Ser66=
ENST00000677532.1:c.222G>A	ENSP00000503471.1:p.Ser74=
ENST00000677554.1:c.198G>A	ENSP00000504513.1:p.Ser66=
ENST00000677698.1:c.571G>A
ENST00000678269.1:c.198G>A	ENSP00000504150.1:p.Ser66=
ENST00000678394.1:n.375G>A
ENST00000678454.1:n.228G>A
ENST00000678600.1:n.239G>A
ENST00000678688.1:c.198G>A	ENSP00000503990.1:p.Ser66=
ENST00000678788.1:c.198G>A	ENSP00000504684.1:p.Ser66=
ENST00000678819.1:c.*61G>A	ENSP00000503199.1:n.*61G>A
ENST00000679264.1:n.227G>A
ENST00000679311.1:n.228G>A
ENST00000679320.1:c.198G>A	ENSP00000504780.1:p.Ser66=
XM_017028812.1:c.99G>A	XP_016884301.1:p.Ser33=
XM_024452250.1:c.198G>A	XP_024308018.1:p.Ser66=