Canonical Allele Identifier: CA411725015

Gene: ACO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41522934A>G , CM000684.2:g.41522934A>G	GRCh38
NC_000022.10:g.41918938A>G , CM000684.1:g.41918938A>G	GRCh37
NC_000022.9:g.40248884A>G	NCBI36
NG_032143.1:g.58810A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001098.3:c.1243A>G MANE Select	NP_001089.1:p.Thr415Ala
ENST00000216254.9:c.1243A>G MANE Select	ENSP00000216254.4:p.Thr415Ala
NM_001098.2:c.1243A>G	NP_001089.1:p.Thr415Ala
ENST00000216254.8:c.1243A>G	ENSP00000216254.4:p.Thr415Ala
ENST00000396512.3:c.1318A>G	ENSP00000379769.3:p.Thr440Ala
ENST00000676664.1:c.1306A>G	ENSP00000503709.1:n.1306A>G
ENST00000676714.1:c.*1161A>G	ENSP00000504699.1:n.*1161A>G
ENST00000676748.1:c.1144A>G	ENSP00000503371.1:p.Thr382Ala
ENST00000676792.1:c.1078A>G	ENSP00000503590.1:p.Thr360Ala
ENST00000676822.1:n.1491A>G
ENST00000676959.1:c.1243A>G	ENSP00000504377.1:p.Thr415Ala
ENST00000677007.1:c.*72-271A>G	ENSP00000504634.1:n.*72-271A>G
ENST00000677153.1:c.1144A>G	ENSP00000504453.1:p.Thr382Ala
ENST00000677492.1:n.2202A>G
ENST00000677516.1:c.*642A>G	ENSP00000503370.1:n.*642A>G
ENST00000677532.1:c.1267A>G	ENSP00000503471.1:p.Thr423Ala
ENST00000677554.1:c.1243A>G	ENSP00000504513.1:p.Thr415Ala
ENST00000677698.1:c.1616A>G
ENST00000678269.1:c.1318A>G	ENSP00000504150.1:p.Thr440Ala
ENST00000678394.1:n.1958A>G
ENST00000678600.1:n.1284A>G
ENST00000678688.1:c.*479A>G	ENSP00000503990.1:n.*479A>G
ENST00000678788.1:c.1228A>G	ENSP00000504684.1:p.Thr410Ala
ENST00000678819.1:c.*1106A>G	ENSP00000503199.1:n.*1106A>G
ENST00000679264.1:n.2224A>G
ENST00000679284.1:n.919A>G
ENST00000679311.1:n.1273A>G
ENST00000679320.1:c.1243A>G	ENSP00000504780.1:p.Thr415Ala
XM_017028812.1:c.1144A>G	XP_016884301.1:p.Thr382Ala
XM_024452250.1:c.1243A>G	XP_024308018.1:p.Thr415Ala