Canonical Allele Identifier: CA411727314

Gene: ACO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41524870G>T , CM000684.2:g.41524870G>T	GRCh38
NC_000022.10:g.41920874G>T , CM000684.1:g.41920874G>T	GRCh37
NC_000022.9:g.40250820G>T	NCBI36
NG_032143.1:g.60746G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001098.3:c.1507G>T MANE Select	NP_001089.1:p.Gly503Ter
ENST00000216254.9:c.1507G>T MANE Select	ENSP00000216254.4:p.Gly503Ter
NM_001098.2:c.1507G>T	NP_001089.1:p.Gly503Ter
ENST00000216254.8:c.1507G>T	ENSP00000216254.4:p.Gly503Ter
ENST00000396512.3:c.1582G>T	ENSP00000379769.3:p.Gly528Ter
ENST00000676664.1:c.1570G>T	ENSP00000503709.1:n.1570G>T
ENST00000676714.1:c.*1425G>T	ENSP00000504699.1:n.*1425G>T
ENST00000676748.1:c.1408G>T	ENSP00000503371.1:p.Gly470Ter
ENST00000676792.1:c.1342G>T	ENSP00000503590.1:p.Gly448Ter
ENST00000676822.1:n.1755G>T
ENST00000676883.1:n.613G>T
ENST00000676959.1:c.1428G>T	ENSP00000504377.1:p.Arg476=
ENST00000677007.1:c.*282G>T	ENSP00000504634.1:n.*282G>T
ENST00000677153.1:c.1408G>T	ENSP00000504453.1:p.Gly470Ter
ENST00000677492.1:n.2466G>T
ENST00000677516.1:c.*906G>T	ENSP00000503370.1:n.*906G>T
ENST00000677532.1:c.1531G>T	ENSP00000503471.1:p.Gly511Ter
ENST00000677554.1:c.1507G>T	ENSP00000504513.1:p.Gly503Ter
ENST00000677698.1:c.1880G>T
ENST00000678269.1:c.1582G>T	ENSP00000504150.1:p.Gly528Ter
ENST00000678394.1:n.2222G>T
ENST00000678600.1:n.1548G>T
ENST00000678688.1:c.*743G>T	ENSP00000503990.1:n.*743G>T
ENST00000678788.1:c.1492G>T	ENSP00000504684.1:p.Gly498Ter
ENST00000678819.1:c.*1370G>T	ENSP00000503199.1:n.*1370G>T
ENST00000679264.1:n.2488G>T
ENST00000679284.1:n.1400G>T
ENST00000679311.1:n.1754G>T
ENST00000679320.1:c.1507G>T	ENSP00000504780.1:p.Gly503Ter
XM_017028812.1:c.1408G>T	XP_016884301.1:p.Gly470Ter
XM_024452250.1:c.1507G>T	XP_024308018.1:p.Gly503Ter