Canonical Allele Identifier: CA10257345

Gene: ACO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41508041C>T , CM000684.2:g.41508041C>T	GRCh38
NC_000022.10:g.41904045C>T , CM000684.1:g.41904045C>T	GRCh37
NC_000022.9:g.40233991C>T	NCBI36
NG_032143.1:g.43917C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216254.9:c.424C>T MANE Select	ENSP00000216254.4:p.Arg142Trp
ENST00000466237.2:c.424C>T	ENSP00000504719.1:p.Arg142Trp
ENST00000676664.1:c.370C>T	ENSP00000503709.1:p.Arg124Trp
ENST00000676714.1:c.*342C>T	ENSP00000504699.1:n.*342C>T
ENST00000676748.1:c.325C>T	ENSP00000503371.1:p.Arg109Trp
ENST00000676792.1:c.259C>T	ENSP00000503590.1:p.Arg87Trp
ENST00000676822.1:n.672C>T
ENST00000676959.1:c.424C>T	ENSP00000504377.1:p.Arg142Trp
ENST00000677007.1:c.424C>T	ENSP00000504634.1:p.Arg142Trp
ENST00000677153.1:c.325C>T	ENSP00000504453.1:p.Arg109Trp
ENST00000677427.1:n.454C>T
ENST00000677516.1:c.424C>T	ENSP00000503370.1:p.Arg142Trp
ENST00000677532.1:c.448C>T	ENSP00000503471.1:p.Arg150Trp
ENST00000677554.1:c.424C>T	ENSP00000504513.1:p.Arg142Trp
ENST00000677698.1:c.797C>T
ENST00000678269.1:c.424C>T	ENSP00000504150.1:p.Arg142Trp
ENST00000678394.1:n.601C>T
ENST00000678454.1:n.454C>T
ENST00000678600.1:n.465C>T
ENST00000678688.1:c.424C>T	ENSP00000503990.1:p.Arg142Trp
ENST00000678788.1:c.424C>T	ENSP00000504684.1:p.Arg142Trp
ENST00000678819.1:c.*287C>T	ENSP00000503199.1:n.*287C>T
ENST00000679264.1:n.453C>T
ENST00000679311.1:n.454C>T
ENST00000679320.1:c.424C>T	ENSP00000504780.1:p.Arg142Trp
ENST00000216254.8:c.424C>T	ENSP00000216254.4:p.Arg142Trp
ENST00000396512.3:c.424C>T	ENSP00000379769.3:p.Arg142Trp
ENST00000471094.1:n.600C>T
ENST00000478010.1:n.27C>T
ENST00000482208.1:n.204C>T
NM_001098.2:c.424C>T	NP_001089.1:p.Arg142Trp
XM_017028812.1:c.325C>T	XP_016884301.1:p.Arg109Trp
XM_024452250.1:c.424C>T	XP_024308018.1:p.Arg142Trp
NM_001098.3:c.424C>T MANE Select	NP_001089.1:p.Arg142Trp