Canonical Allele Identifier: CA10257349

Gene: ACO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41508068T>C , CM000684.2:g.41508068T>C	GRCh38
NC_000022.10:g.41904072T>C , CM000684.1:g.41904072T>C	GRCh37
NC_000022.9:g.40234018T>C	NCBI36
NG_032143.1:g.43944T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216254.9:c.432+19T>C MANE Select	ENSP00000216254.4:n.432+19T>C
ENST00000466237.2:c.432+19T>C	ENSP00000504719.1:n.432+19T>C
ENST00000676664.1:c.378+19T>C	ENSP00000503709.1:n.378+19T>C
ENST00000676714.1:c.*350+19T>C	ENSP00000504699.1:n.*350+19T>C
ENST00000676748.1:c.333+19T>C	ENSP00000503371.1:n.333+19T>C
ENST00000676792.1:c.267+19T>C	ENSP00000503590.1:n.267+19T>C
ENST00000676822.1:n.680+19T>C
ENST00000676959.1:c.432+19T>C	ENSP00000504377.1:n.432+19T>C
ENST00000677007.1:c.432+19T>C	ENSP00000504634.1:n.432+19T>C
ENST00000677153.1:c.333+19T>C	ENSP00000504453.1:n.333+19T>C
ENST00000677427.1:n.462+19T>C
ENST00000677516.1:c.432+19T>C	ENSP00000503370.1:n.432+19T>C
ENST00000677532.1:c.456+19T>C	ENSP00000503471.1:n.456+19T>C
ENST00000677554.1:c.432+19T>C	ENSP00000504513.1:n.432+19T>C
ENST00000677698.1:c.805+19T>C
ENST00000678269.1:c.432+19T>C	ENSP00000504150.1:n.432+19T>C
ENST00000678394.1:n.609+19T>C
ENST00000678454.1:n.462+19T>C
ENST00000678600.1:n.473+19T>C
ENST00000678688.1:c.432+19T>C	ENSP00000503990.1:n.432+19T>C
ENST00000678788.1:c.432+19T>C	ENSP00000504684.1:n.432+19T>C
ENST00000678819.1:c.*295+19T>C	ENSP00000503199.1:n.*295+19T>C
ENST00000679264.1:n.461+19T>C
ENST00000679311.1:n.462+19T>C
ENST00000679320.1:c.432+19T>C	ENSP00000504780.1:n.432+19T>C
ENST00000216254.8:c.432+19T>C	ENSP00000216254.4:n.432+19T>C
ENST00000396512.3:c.432+19T>C	ENSP00000379769.3:n.432+19T>C
ENST00000471094.1:n.608+19T>C
ENST00000478010.1:n.35+19T>C
ENST00000482208.1:n.212+19T>C
NM_001098.2:c.432+19T>C	NP_001089.1:n.432+19T>C
XM_017028812.1:c.333+19T>C	XP_016884301.1:n.333+19T>C
XM_024452250.1:c.432+19T>C	XP_024308018.1:n.432+19T>C
NM_001098.3:c.432+19T>C MANE Select	NP_001089.1:n.432+19T>C