Canonical Allele Identifier: CA411705576

Gene: ACO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41469165C>G , CM000684.2:g.41469165C>G	GRCh38
NC_000022.10:g.41865169C>G , CM000684.1:g.41865169C>G	GRCh37
NC_000022.9:g.40195115C>G	NCBI36
NG_032143.1:g.5041C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001098.3:c.19C>G MANE Select	NP_001089.1:p.Leu7Val
ENST00000216254.9:c.19C>G MANE Select	ENSP00000216254.4:p.Leu7Val
NM_001098.2:c.19C>G	NP_001089.1:p.Leu7Val
ENST00000216254.8:c.19C>G	ENSP00000216254.4:p.Leu7Val
ENST00000396512.3:c.19C>G	ENSP00000379769.3:p.Leu7Val
ENST00000466237.2:c.19C>G	ENSP00000504719.1:p.Leu7Val
ENST00000471094.1:n.6C>G
ENST00000676714.1:c.19C>G	ENSP00000504699.1:p.Leu7Val
ENST00000676748.1:c.-64+21133C>G	ENSP00000503371.1:n.-64+21133C>G
ENST00000676792.1:c.-469C>G	ENSP00000503590.1:n.-469C>G
ENST00000676959.1:c.19C>G	ENSP00000504377.1:p.Leu7Val
ENST00000677007.1:c.19C>G	ENSP00000504634.1:p.Leu7Val
ENST00000677153.1:c.-296C>G	ENSP00000504453.1:n.-296C>G
ENST00000677427.1:n.49C>G
ENST00000677516.1:c.19C>G	ENSP00000503370.1:p.Leu7Val
ENST00000677532.1:c.19C>G	ENSP00000503471.1:p.Leu7Val
ENST00000677554.1:c.19C>G	ENSP00000504513.1:p.Leu7Val
ENST00000678269.1:c.19C>G	ENSP00000504150.1:p.Leu7Val
ENST00000678394.1:n.54C>G
ENST00000678454.1:n.49C>G
ENST00000678600.1:n.60C>G
ENST00000678688.1:c.19C>G	ENSP00000503990.1:p.Leu7Val
ENST00000678788.1:c.19C>G	ENSP00000504684.1:p.Leu7Val
ENST00000678819.1:c.19C>G	ENSP00000503199.1:p.Leu7Val
ENST00000679311.1:n.49C>G
ENST00000679320.1:c.19C>G	ENSP00000504780.1:p.Leu7Val
XM_017028812.1:c.-407C>G	XP_016884301.1:n.-407C>G
XM_024452250.1:c.19C>G	XP_024308018.1:p.Leu7Val