Canonical Allele Identifier: CA411713625

Gene: ACO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41507945T>C , CM000684.2:g.41507945T>C	GRCh38
NC_000022.10:g.41903949T>C , CM000684.1:g.41903949T>C	GRCh37
NC_000022.9:g.40233895T>C	NCBI36
NG_032143.1:g.43821T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001098.3:c.328T>C MANE Select	NP_001089.1:p.Phe110Leu
ENST00000216254.9:c.328T>C MANE Select	ENSP00000216254.4:p.Phe110Leu
NM_001098.2:c.328T>C	NP_001089.1:p.Phe110Leu
ENST00000216254.8:c.328T>C	ENSP00000216254.4:p.Phe110Leu
ENST00000396512.3:c.328T>C	ENSP00000379769.3:p.Phe110Leu
ENST00000466237.2:c.328T>C	ENSP00000504719.1:p.Phe110Leu
ENST00000471094.1:n.504T>C
ENST00000482208.1:n.108T>C
ENST00000676664.1:c.274T>C	ENSP00000503709.1:p.Phe92Leu
ENST00000676714.1:c.*246T>C	ENSP00000504699.1:n.*246T>C
ENST00000676748.1:c.229T>C	ENSP00000503371.1:p.Phe77Leu
ENST00000676792.1:c.163T>C	ENSP00000503590.1:p.Phe55Leu
ENST00000676822.1:n.576T>C
ENST00000676959.1:c.328T>C	ENSP00000504377.1:p.Phe110Leu
ENST00000677007.1:c.328T>C	ENSP00000504634.1:p.Phe110Leu
ENST00000677153.1:c.229T>C	ENSP00000504453.1:p.Phe77Leu
ENST00000677427.1:n.358T>C
ENST00000677516.1:c.328T>C	ENSP00000503370.1:p.Phe110Leu
ENST00000677532.1:c.352T>C	ENSP00000503471.1:p.Phe118Leu
ENST00000677554.1:c.328T>C	ENSP00000504513.1:p.Phe110Leu
ENST00000677698.1:c.701T>C
ENST00000678269.1:c.328T>C	ENSP00000504150.1:p.Phe110Leu
ENST00000678394.1:n.505T>C
ENST00000678454.1:n.358T>C
ENST00000678600.1:n.369T>C
ENST00000678688.1:c.328T>C	ENSP00000503990.1:p.Phe110Leu
ENST00000678788.1:c.328T>C	ENSP00000504684.1:p.Phe110Leu
ENST00000678819.1:c.*191T>C	ENSP00000503199.1:n.*191T>C
ENST00000679264.1:n.357T>C
ENST00000679311.1:n.358T>C
ENST00000679320.1:c.328T>C	ENSP00000504780.1:p.Phe110Leu
XM_017028812.1:c.229T>C	XP_016884301.1:p.Phe77Leu
XM_024452250.1:c.328T>C	XP_024308018.1:p.Phe110Leu