Canonical Allele Identifier: CA324580538

Gene: ACO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41525087G>A , CM000684.2:g.41525087G>A	GRCh38
NC_000022.10:g.41921091G>A , CM000684.1:g.41921091G>A	GRCh37
NC_000022.9:g.40251037G>A	NCBI36
NG_032143.1:g.60963G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216254.9:c.1606-106G>A MANE Select	ENSP00000216254.4:n.1606-106G>A
ENST00000676664.1:c.1669-106G>A	ENSP00000503709.1:n.1669-106G>A
ENST00000676714.1:c.*1524-106G>A	ENSP00000504699.1:n.*1524-106G>A
ENST00000676748.1:c.1507-106G>A	ENSP00000503371.1:n.1507-106G>A
ENST00000676792.1:c.1441-106G>A	ENSP00000503590.1:n.1441-106G>A
ENST00000676822.1:n.1854-106G>A
ENST00000676883.1:n.712-106G>A
ENST00000676959.1:c.*63-106G>A	ENSP00000504377.1:n.*63-106G>A
ENST00000677007.1:c.*381-106G>A	ENSP00000504634.1:n.*381-106G>A
ENST00000677153.1:c.1507-106G>A	ENSP00000504453.1:n.1507-106G>A
ENST00000677492.1:n.2565-106G>A
ENST00000677516.1:c.*1005-106G>A	ENSP00000503370.1:n.*1005-106G>A
ENST00000677532.1:c.1630-106G>A	ENSP00000503471.1:n.1630-106G>A
ENST00000677554.1:c.1606-106G>A	ENSP00000504513.1:n.1606-106G>A
ENST00000677698.1:c.1979-106G>A
ENST00000678269.1:c.1681-106G>A	ENSP00000504150.1:n.1681-106G>A
ENST00000678394.1:n.2321-106G>A
ENST00000678600.1:n.1647-106G>A
ENST00000678688.1:c.*842-106G>A	ENSP00000503990.1:n.*842-106G>A
ENST00000678788.1:c.1591-106G>A	ENSP00000504684.1:n.1591-106G>A
ENST00000678819.1:c.*1469-106G>A	ENSP00000503199.1:n.*1469-106G>A
ENST00000679264.1:n.2587-106G>A
ENST00000679284.1:n.1499-106G>A
ENST00000679311.1:n.1853-106G>A
ENST00000679320.1:c.1606-106G>A	ENSP00000504780.1:n.1606-106G>A
ENST00000216254.8:c.1606-106G>A	ENSP00000216254.4:n.1606-106G>A
ENST00000396512.3:c.1681-106G>A	ENSP00000379769.3:n.1681-106G>A
NM_001098.2:c.1606-106G>A	NP_001089.1:n.1606-106G>A
XM_017028812.1:c.1507-106G>A	XP_016884301.1:n.1507-106G>A
XM_024452250.1:c.1606-106G>A	XP_024308018.1:n.1606-106G>A
NM_001098.3:c.1606-106G>A MANE Select	NP_001089.1:n.1606-106G>A