Canonical Allele Identifier: CA10257398

Gene: ACO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41515424T>C , CM000684.2:g.41515424T>C	GRCh38
NC_000022.10:g.41911428T>C , CM000684.1:g.41911428T>C	GRCh37
NC_000022.9:g.40241374T>C	NCBI36
NG_032143.1:g.51300T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216254.9:c.573T>C MANE Select	ENSP00000216254.4:p.Thr191=
ENST00000466237.2:c.573T>C	ENSP00000504719.1:p.Thr191=
ENST00000676664.1:c.636T>C	ENSP00000503709.1:n.636T>C
ENST00000676714.1:c.*491T>C	ENSP00000504699.1:n.*491T>C
ENST00000676748.1:c.474T>C	ENSP00000503371.1:p.Thr158=
ENST00000676792.1:c.408T>C	ENSP00000503590.1:p.Thr136=
ENST00000676822.1:n.821T>C
ENST00000676959.1:c.573T>C	ENSP00000504377.1:p.Thr191=
ENST00000677007.1:c.573T>C	ENSP00000504634.1:p.Thr191=
ENST00000677153.1:c.474T>C	ENSP00000504453.1:p.Thr158=
ENST00000677427.1:n.603T>C
ENST00000677516.1:c.573T>C	ENSP00000503370.1:p.Thr191=
ENST00000677532.1:c.597T>C	ENSP00000503471.1:p.Thr199=
ENST00000677554.1:c.573T>C	ENSP00000504513.1:p.Thr191=
ENST00000677698.1:c.946T>C
ENST00000678269.1:c.573T>C	ENSP00000504150.1:p.Thr191=
ENST00000678394.1:n.750T>C
ENST00000678454.1:n.603T>C
ENST00000678600.1:n.614T>C
ENST00000678688.1:c.573T>C	ENSP00000503990.1:p.Thr191=
ENST00000678788.1:c.573T>C	ENSP00000504684.1:p.Thr191=
ENST00000678819.1:c.*436T>C	ENSP00000503199.1:n.*436T>C
ENST00000679264.1:n.602T>C
ENST00000679311.1:n.603T>C
ENST00000679320.1:c.573T>C	ENSP00000504780.1:p.Thr191=
ENST00000216254.8:c.573T>C	ENSP00000216254.4:p.Thr191=
ENST00000396512.3:c.573T>C	ENSP00000379769.3:p.Thr191=
ENST00000478010.1:n.176T>C
NM_001098.2:c.573T>C	NP_001089.1:p.Thr191=
XM_017028812.1:c.474T>C	XP_016884301.1:p.Thr158=
XM_024452250.1:c.573T>C	XP_024308018.1:p.Thr191=
NM_001098.3:c.573T>C MANE Select	NP_001089.1:p.Thr191=