Canonical Allele Identifier: CA411726988

Gene: ACO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41523901A>C , CM000684.2:g.41523901A>C	GRCh38
NC_000022.10:g.41919905A>C , CM000684.1:g.41919905A>C	GRCh37
NC_000022.9:g.40249851A>C	NCBI36
NG_032143.1:g.59777A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001098.3:c.1442A>C MANE Select	NP_001089.1:p.Asp481Ala
ENST00000216254.9:c.1442A>C MANE Select	ENSP00000216254.4:p.Asp481Ala
NM_001098.2:c.1442A>C	NP_001089.1:p.Asp481Ala
ENST00000216254.8:c.1442A>C	ENSP00000216254.4:p.Asp481Ala
ENST00000396512.3:c.1517A>C	ENSP00000379769.3:p.Asp506Ala
ENST00000676664.1:c.1505A>C	ENSP00000503709.1:n.1505A>C
ENST00000676714.1:c.*1360A>C	ENSP00000504699.1:n.*1360A>C
ENST00000676748.1:c.1343A>C	ENSP00000503371.1:p.Asp448Ala
ENST00000676792.1:c.1277A>C	ENSP00000503590.1:p.Asp426Ala
ENST00000676822.1:n.1690A>C
ENST00000676883.1:n.548A>C
ENST00000676959.1:c.1363A>C	ENSP00000504377.1:p.Thr455Pro
ENST00000677007.1:c.*217A>C	ENSP00000504634.1:n.*217A>C
ENST00000677153.1:c.1343A>C	ENSP00000504453.1:p.Asp448Ala
ENST00000677492.1:n.2401A>C
ENST00000677516.1:c.*841A>C	ENSP00000503370.1:n.*841A>C
ENST00000677532.1:c.1466A>C	ENSP00000503471.1:p.Asp489Ala
ENST00000677554.1:c.1442A>C	ENSP00000504513.1:p.Asp481Ala
ENST00000677698.1:c.1815A>C
ENST00000678269.1:c.1517A>C	ENSP00000504150.1:p.Asp506Ala
ENST00000678394.1:n.2157A>C
ENST00000678600.1:n.1483A>C
ENST00000678688.1:c.*678A>C	ENSP00000503990.1:n.*678A>C
ENST00000678788.1:c.1427A>C	ENSP00000504684.1:p.Asp476Ala
ENST00000678819.1:c.*1305A>C	ENSP00000503199.1:n.*1305A>C
ENST00000679264.1:n.2423A>C
ENST00000679284.1:n.1335A>C
ENST00000679311.1:n.1689A>C
ENST00000679320.1:c.1442A>C	ENSP00000504780.1:p.Asp481Ala
XM_017028812.1:c.1343A>C	XP_016884301.1:p.Asp448Ala
XM_024452250.1:c.1442A>C	XP_024308018.1:p.Asp481Ala