Canonical Allele Identifier: CA10257530

Gene: ACO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41518560T>A , CM000684.2:g.41518560T>A	GRCh38
NC_000022.10:g.41914564T>A , CM000684.1:g.41914564T>A	GRCh37
NC_000022.9:g.40244510T>A	NCBI36
NG_032143.1:g.54436T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216254.9:c.1020T>A MANE Select	ENSP00000216254.4:p.Ile340=
ENST00000466237.2:c.1020T>A	ENSP00000504719.1:p.Ile340=
ENST00000676664.1:c.1083T>A	ENSP00000503709.1:n.1083T>A
ENST00000676714.1:c.*938T>A	ENSP00000504699.1:n.*938T>A
ENST00000676748.1:c.921T>A	ENSP00000503371.1:p.Ile307=
ENST00000676792.1:c.855T>A	ENSP00000503590.1:p.Ile285=
ENST00000676822.1:n.1268T>A
ENST00000676959.1:c.1020T>A	ENSP00000504377.1:p.Ile340=
ENST00000677007.1:c.940+929T>A	ENSP00000504634.1:n.940+929T>A
ENST00000677153.1:c.921T>A	ENSP00000504453.1:p.Ile307=
ENST00000677427.1:n.1050T>A
ENST00000677492.1:n.1979T>A
ENST00000677516.1:c.*431+152T>A	ENSP00000503370.1:n.*431+152T>A
ENST00000677532.1:c.1044T>A	ENSP00000503471.1:p.Ile348=
ENST00000677554.1:c.1020T>A	ENSP00000504513.1:p.Ile340=
ENST00000677698.1:c.1393T>A
ENST00000678269.1:c.1095T>A	ENSP00000504150.1:p.Ile365=
ENST00000678394.1:n.1735T>A
ENST00000678454.1:n.1588T>A
ENST00000678600.1:n.1061T>A
ENST00000678688.1:c.*256T>A	ENSP00000503990.1:n.*256T>A
ENST00000678788.1:c.1005T>A	ENSP00000504684.1:p.Ile335=
ENST00000678819.1:c.*883T>A	ENSP00000503199.1:n.*883T>A
ENST00000679264.1:n.2001T>A
ENST00000679311.1:n.1050T>A
ENST00000679320.1:c.1020T>A	ENSP00000504780.1:p.Ile340=
ENST00000216254.8:c.1020T>A	ENSP00000216254.4:p.Ile340=
ENST00000396512.3:c.1095T>A	ENSP00000379769.3:p.Ile365=
ENST00000466237.1:n.337T>A
NM_001098.2:c.1020T>A	NP_001089.1:p.Ile340=
XM_017028812.1:c.921T>A	XP_016884301.1:p.Ile307=
XM_024452250.1:c.1020T>A	XP_024308018.1:p.Ile340=
NM_001098.3:c.1020T>A MANE Select	NP_001089.1:p.Ile340=