Canonical Allele Identifier: CA321374

Gene: ACO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41515801G>C , CM000684.2:g.41515801G>C	GRCh38
NC_000022.10:g.41911805G>C , CM000684.1:g.41911805G>C	GRCh37
NC_000022.9:g.40241751G>C	NCBI36
NG_032143.1:g.51677G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216254.9:c.719G>C MANE Select	ENSP00000216254.4:p.Gly240Ala
ENST00000466237.2:c.719G>C	ENSP00000504719.1:p.Gly240Ala
ENST00000676664.1:c.782G>C	ENSP00000503709.1:n.782G>C
ENST00000676714.1:c.*637G>C	ENSP00000504699.1:n.*637G>C
ENST00000676748.1:c.620G>C	ENSP00000503371.1:p.Gly207Ala
ENST00000676792.1:c.554G>C	ENSP00000503590.1:p.Gly185Ala
ENST00000676822.1:n.967G>C
ENST00000676959.1:c.719G>C	ENSP00000504377.1:p.Gly240Ala
ENST00000677007.1:c.719G>C	ENSP00000504634.1:p.Gly240Ala
ENST00000677153.1:c.620G>C	ENSP00000504453.1:p.Gly207Ala
ENST00000677427.1:n.749G>C
ENST00000677516.1:c.719G>C	ENSP00000503370.1:p.Gly240Ala
ENST00000677532.1:c.743G>C	ENSP00000503471.1:p.Gly248Ala
ENST00000677554.1:c.719G>C	ENSP00000504513.1:p.Gly240Ala
ENST00000677698.1:c.1092G>C
ENST00000678269.1:c.719G>C	ENSP00000504150.1:p.Gly240Ala
ENST00000678394.1:n.896G>C
ENST00000678454.1:n.749G>C
ENST00000678600.1:n.760G>C
ENST00000678688.1:c.719G>C	ENSP00000503990.1:p.Gly240Ala
ENST00000678788.1:c.719G>C	ENSP00000504684.1:p.Gly240Ala
ENST00000678819.1:c.*582G>C	ENSP00000503199.1:n.*582G>C
ENST00000679264.1:n.748G>C
ENST00000679311.1:n.749G>C
ENST00000679320.1:c.719G>C	ENSP00000504780.1:p.Gly240Ala
ENST00000216254.8:c.719G>C	ENSP00000216254.4:p.Gly240Ala
ENST00000396512.3:c.719G>C	ENSP00000379769.3:p.Gly240Ala
ENST00000466237.1:n.36G>C
ENST00000478010.1:n.322G>C
ENST00000481310.1:n.58G>C
NM_001098.2:c.719G>C	NP_001089.1:p.Gly240Ala
XM_017028812.1:c.620G>C	XP_016884301.1:p.Gly207Ala
XM_024452250.1:c.719G>C	XP_024308018.1:p.Gly240Ala
NM_001098.3:c.719G>C MANE Select	NP_001089.1:p.Gly240Ala