Canonical Allele Identifier: CA411716170

Gene: ACO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41511964A>G , CM000684.2:g.41511964A>G	GRCh38
NC_000022.10:g.41907968A>G , CM000684.1:g.41907968A>G	GRCh37
NC_000022.9:g.40237914A>G	NCBI36
NG_032143.1:g.47840A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216254.9:c.521A>G MANE Select	ENSP00000216254.4:p.His174Arg
ENST00000466237.2:c.521A>G	ENSP00000504719.1:p.His174Arg
ENST00000676664.1:c.584A>G	ENSP00000503709.1:n.584A>G
ENST00000676714.1:c.*439A>G	ENSP00000504699.1:n.*439A>G
ENST00000676748.1:c.422A>G	ENSP00000503371.1:p.His141Arg
ENST00000676792.1:c.356A>G	ENSP00000503590.1:p.His119Arg
ENST00000676822.1:n.769A>G
ENST00000676959.1:c.521A>G	ENSP00000504377.1:p.His174Arg
ENST00000677007.1:c.521A>G	ENSP00000504634.1:p.His174Arg
ENST00000677153.1:c.422A>G	ENSP00000504453.1:p.His141Arg
ENST00000677427.1:n.551A>G
ENST00000677516.1:c.521A>G	ENSP00000503370.1:p.His174Arg
ENST00000677532.1:c.545A>G	ENSP00000503471.1:p.His182Arg
ENST00000677554.1:c.521A>G	ENSP00000504513.1:p.His174Arg
ENST00000677698.1:c.894A>G
ENST00000678269.1:c.521A>G	ENSP00000504150.1:p.His174Arg
ENST00000678394.1:n.698A>G
ENST00000678454.1:n.551A>G
ENST00000678600.1:n.562A>G
ENST00000678688.1:c.521A>G	ENSP00000503990.1:p.His174Arg
ENST00000678788.1:c.521A>G	ENSP00000504684.1:p.His174Arg
ENST00000678819.1:c.*384A>G	ENSP00000503199.1:n.*384A>G
ENST00000679264.1:n.550A>G
ENST00000679311.1:n.551A>G
ENST00000679320.1:c.521A>G	ENSP00000504780.1:p.His174Arg
ENST00000216254.8:c.521A>G	ENSP00000216254.4:p.His174Arg
ENST00000396512.3:c.521A>G	ENSP00000379769.3:p.His174Arg
ENST00000471094.1:n.697A>G
ENST00000478010.1:n.124A>G
ENST00000482208.1:n.301A>G
NM_001098.2:c.521A>G	NP_001089.1:p.His174Arg
XM_017028812.1:c.422A>G	XP_016884301.1:p.His141Arg
XM_024452250.1:c.521A>G	XP_024308018.1:p.His174Arg
NM_001098.3:c.521A>G MANE Select	NP_001089.1:p.His174Arg