Canonical Allele Identifier: CA10257320

Gene: ACO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41507862T>C , CM000684.2:g.41507862T>C	GRCh38
NC_000022.10:g.41903866T>C , CM000684.1:g.41903866T>C	GRCh37
NC_000022.9:g.40233812T>C	NCBI36
NG_032143.1:g.43738T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001098.3:c.245T>C MANE Select	NP_001089.1:p.Ile82Thr
ENST00000216254.9:c.245T>C MANE Select	ENSP00000216254.4:p.Ile82Thr
NM_001098.2:c.245T>C	NP_001089.1:p.Ile82Thr
ENST00000216254.8:c.245T>C	ENSP00000216254.4:p.Ile82Thr
ENST00000396512.3:c.245T>C	ENSP00000379769.3:p.Ile82Thr
ENST00000466237.2:c.245T>C	ENSP00000504719.1:p.Ile82Thr
ENST00000471094.1:n.421T>C
ENST00000482208.1:n.25T>C
ENST00000676664.1:c.191T>C	ENSP00000503709.1:p.Ile64Thr
ENST00000676714.1:c.*163T>C	ENSP00000504699.1:n.*163T>C
ENST00000676748.1:c.146T>C	ENSP00000503371.1:p.Ile49Thr
ENST00000676792.1:c.80T>C	ENSP00000503590.1:p.Ile27Thr
ENST00000676822.1:n.493T>C
ENST00000676959.1:c.245T>C	ENSP00000504377.1:p.Ile82Thr
ENST00000677007.1:c.245T>C	ENSP00000504634.1:p.Ile82Thr
ENST00000677153.1:c.146T>C	ENSP00000504453.1:p.Ile49Thr
ENST00000677427.1:n.275T>C
ENST00000677516.1:c.245T>C	ENSP00000503370.1:p.Ile82Thr
ENST00000677532.1:c.269T>C	ENSP00000503471.1:p.Ile90Thr
ENST00000677554.1:c.245T>C	ENSP00000504513.1:p.Ile82Thr
ENST00000677698.1:c.618T>C
ENST00000678269.1:c.245T>C	ENSP00000504150.1:p.Ile82Thr
ENST00000678394.1:n.422T>C
ENST00000678454.1:n.275T>C
ENST00000678600.1:n.286T>C
ENST00000678688.1:c.245T>C	ENSP00000503990.1:p.Ile82Thr
ENST00000678788.1:c.245T>C	ENSP00000504684.1:p.Ile82Thr
ENST00000678819.1:c.*108T>C	ENSP00000503199.1:n.*108T>C
ENST00000679264.1:n.274T>C
ENST00000679311.1:n.275T>C
ENST00000679320.1:c.245T>C	ENSP00000504780.1:p.Ile82Thr
XM_017028812.1:c.146T>C	XP_016884301.1:p.Ile49Thr
XM_024452250.1:c.245T>C	XP_024308018.1:p.Ile82Thr