Canonical Allele Identifier: CA2406290635

Gene: ACO2 POLR3H

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41527315G= , CM000684.2:g.41527315G=	GRCh38
NC_000022.10:g.41923319G= , CM000684.1:g.41923319G=	GRCh37
NC_000022.9:g.40253265G=	NCBI36
NG_032143.1:g.63191G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216254.9:c.1981G= (ACO2) MANE Select	ENSP00000216254.4:p.Gly661=
ENST00000355209.9:c.*1968C= (POLR3H) MANE Select	ENSP00000347345.4:n.*1968C=
ENST00000676664.1:c.2044G= (ACO2)	ENSP00000503709.1:n.2044G=
ENST00000676714.1:c.*1899G= (ACO2)	ENSP00000504699.1:n.*1899G=
ENST00000676748.1:c.1882G= (ACO2)	ENSP00000503371.1:p.Gly628=
ENST00000676792.1:c.1816G= (ACO2)	ENSP00000503590.1:p.Gly606=
ENST00000676822.1:n.2229G= (ACO2)
ENST00000676883.1:n.2000G= (ACO2)
ENST00000676959.1:c.*438G= (ACO2)	ENSP00000504377.1:n.*438G=
ENST00000677007.1:c.*756G= (ACO2)	ENSP00000504634.1:n.*756G=
ENST00000677153.1:c.1882G= (ACO2)	ENSP00000504453.1:p.Gly628=
ENST00000677492.1:n.2940G= (ACO2)
ENST00000677516.1:c.*1380G= (ACO2)	ENSP00000503370.1:n.*1380G=
ENST00000677532.1:c.2005G= (ACO2)	ENSP00000503471.1:p.Gly669=
ENST00000677554.1:c.1789G= (ACO2)	ENSP00000504513.1:p.Gly597=
ENST00000677698.1:c.2354G= (ACO2)
ENST00000678269.1:c.2056G= (ACO2)	ENSP00000504150.1:p.Gly686=
ENST00000678394.1:n.2696G= (ACO2)
ENST00000678600.1:n.2022G= (ACO2)
ENST00000678688.1:c.*1217G= (ACO2)	ENSP00000503990.1:n.*1217G=
ENST00000678788.1:c.1966G= (ACO2)	ENSP00000504684.1:p.Gly656=
ENST00000678819.1:c.*1844G= (ACO2)	ENSP00000503199.1:n.*1844G=
ENST00000679264.1:n.2962G= (ACO2)
ENST00000679284.1:n.1874G= (ACO2)
ENST00000679311.1:n.2228G= (ACO2)
ENST00000679320.1:c.2045G= (ACO2)	ENSP00000504780.1:p.Arg682=
ENST00000216254.8:c.1981G= (ACO2)	ENSP00000216254.4:p.Gly661=
ENST00000355209.8:c.*1968C= (POLR3H)	ENSP00000347345.4:n.*1968C=
ENST00000396504.6:c.*1968C= (POLR3H)	ENSP00000379761.2:n.*1968C=
ENST00000396512.3:c.2056G= (ACO2)	ENSP00000379769.3:p.Gly686=
NM_001018050.3:c.*1968C= (POLR3H)	NP_001018060.1:n.*1968C=
NM_001018052.3:c.*1968C= (POLR3H)	NP_001018062.1:n.*1968C=
NM_001098.2:c.1981G= (ACO2)	NP_001089.1:p.Gly661=
NM_001282884.1:c.*1968C= (POLR3H)	NP_001269813.1:n.*1968C=
NM_001282885.1:c.*1968C= (POLR3H)	NP_001269814.1:n.*1968C=
NM_138338.4:c.*1968C= (POLR3H)	NP_612211.1:n.*1968C=
XM_017028812.1:c.1882G= (ACO2)	XP_016884301.1:p.Gly628=
XM_024452250.1:c.1981G= (ACO2)	XP_024308018.1:p.Gly661=
NM_001018050.4:c.*1968C= (POLR3H) MANE Select	NP_001018060.1:n.*1968C=
NM_001098.3:c.1981G= (ACO2) MANE Select	NP_001089.1:p.Gly661=
NM_001018052.4:c.*1968C= (POLR3H)	NP_001018062.1:n.*1968C=
NM_001282884.2:c.*1968C= (POLR3H)	NP_001269813.1:n.*1968C=
NM_001282885.2:c.*1968C= (POLR3H)	NP_001269814.1:n.*1968C=
NM_138338.5:c.*1968C= (POLR3H)	NP_612211.1:n.*1968C=