Canonical Allele Identifier: CA289259

Gene: ACO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41511929C>T , CM000684.2:g.41511929C>T	GRCh38
NC_000022.10:g.41907933C>T , CM000684.1:g.41907933C>T	GRCh37
NC_000022.9:g.40237879C>T	NCBI36
NG_032143.1:g.47805C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216254.9:c.486C>T MANE Select	ENSP00000216254.4:p.Gly162=
ENST00000466237.2:c.486C>T	ENSP00000504719.1:p.Gly162=
ENST00000676664.1:c.549C>T	ENSP00000503709.1:n.549C>T
ENST00000676714.1:c.*404C>T	ENSP00000504699.1:n.*404C>T
ENST00000676748.1:c.387C>T	ENSP00000503371.1:p.Gly129=
ENST00000676792.1:c.321C>T	ENSP00000503590.1:p.Gly107=
ENST00000676822.1:n.734C>T
ENST00000676959.1:c.486C>T	ENSP00000504377.1:p.Gly162=
ENST00000677007.1:c.486C>T	ENSP00000504634.1:p.Gly162=
ENST00000677153.1:c.387C>T	ENSP00000504453.1:p.Gly129=
ENST00000677427.1:n.516C>T
ENST00000677516.1:c.486C>T	ENSP00000503370.1:p.Gly162=
ENST00000677532.1:c.510C>T	ENSP00000503471.1:p.Gly170=
ENST00000677554.1:c.486C>T	ENSP00000504513.1:p.Gly162=
ENST00000677698.1:c.859C>T
ENST00000678269.1:c.486C>T	ENSP00000504150.1:p.Gly162=
ENST00000678394.1:n.663C>T
ENST00000678454.1:n.516C>T
ENST00000678600.1:n.527C>T
ENST00000678688.1:c.486C>T	ENSP00000503990.1:p.Gly162=
ENST00000678788.1:c.486C>T	ENSP00000504684.1:p.Gly162=
ENST00000678819.1:c.*349C>T	ENSP00000503199.1:n.*349C>T
ENST00000679264.1:n.515C>T
ENST00000679311.1:n.516C>T
ENST00000679320.1:c.486C>T	ENSP00000504780.1:p.Gly162=
ENST00000216254.8:c.486C>T	ENSP00000216254.4:p.Gly162=
ENST00000396512.3:c.486C>T	ENSP00000379769.3:p.Gly162=
ENST00000471094.1:n.662C>T
ENST00000478010.1:n.89C>T
ENST00000482208.1:n.266C>T
NM_001098.2:c.486C>T	NP_001089.1:p.Gly162=
XM_017028812.1:c.387C>T	XP_016884301.1:p.Gly129=
XM_024452250.1:c.486C>T	XP_024308018.1:p.Gly162=
NM_001098.3:c.486C>T MANE Select	NP_001089.1:p.Gly162=