Canonical Allele Identifier: CA289261

Gene: ACO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41518589C>T , CM000684.2:g.41518589C>T	GRCh38
NC_000022.10:g.41914593C>T , CM000684.1:g.41914593C>T	GRCh37
NC_000022.9:g.40244539C>T	NCBI36
NG_032143.1:g.54465C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001098.3:c.1032+17C>T MANE Select	NP_001089.1:n.1032+17C>T
ENST00000216254.9:c.1032+17C>T MANE Select	ENSP00000216254.4:n.1032+17C>T
NM_001098.2:c.1032+17C>T	NP_001089.1:n.1032+17C>T
ENST00000216254.8:c.1032+17C>T	ENSP00000216254.4:n.1032+17C>T
ENST00000396512.3:c.1107+17C>T	ENSP00000379769.3:n.1107+17C>T
ENST00000466237.1:n.349+17C>T
ENST00000466237.2:c.1032+17C>T	ENSP00000504719.1:n.1032+17C>T
ENST00000676664.1:c.1095+17C>T	ENSP00000503709.1:n.1095+17C>T
ENST00000676714.1:c.*950+17C>T	ENSP00000504699.1:n.*950+17C>T
ENST00000676748.1:c.933+17C>T	ENSP00000503371.1:n.933+17C>T
ENST00000676792.1:c.867+17C>T	ENSP00000503590.1:n.867+17C>T
ENST00000676822.1:n.1280+17C>T
ENST00000676959.1:c.1032+17C>T	ENSP00000504377.1:n.1032+17C>T
ENST00000677007.1:c.940+958C>T	ENSP00000504634.1:n.940+958C>T
ENST00000677153.1:c.933+17C>T	ENSP00000504453.1:n.933+17C>T
ENST00000677427.1:n.1062+17C>T
ENST00000677492.1:n.1991+17C>T
ENST00000677516.1:c.*431+181C>T	ENSP00000503370.1:n.*431+181C>T
ENST00000677532.1:c.1056+17C>T	ENSP00000503471.1:n.1056+17C>T
ENST00000677554.1:c.1032+17C>T	ENSP00000504513.1:n.1032+17C>T
ENST00000677698.1:c.1405+17C>T
ENST00000678269.1:c.1107+17C>T	ENSP00000504150.1:n.1107+17C>T
ENST00000678394.1:n.1747+17C>T
ENST00000678454.1:n.1617C>T
ENST00000678600.1:n.1073+17C>T
ENST00000678688.1:c.*268+17C>T	ENSP00000503990.1:n.*268+17C>T
ENST00000678788.1:c.1017+17C>T	ENSP00000504684.1:n.1017+17C>T
ENST00000678819.1:c.*895+17C>T	ENSP00000503199.1:n.*895+17C>T
ENST00000679264.1:n.2013+17C>T
ENST00000679311.1:n.1062+17C>T
ENST00000679320.1:c.1032+17C>T	ENSP00000504780.1:n.1032+17C>T
XM_017028812.1:c.933+17C>T	XP_016884301.1:n.933+17C>T
XM_024452250.1:c.1032+17C>T	XP_024308018.1:n.1032+17C>T