Canonical Allele Identifier: CA10257427

Gene: ACO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41515751G>A , CM000684.2:g.41515751G>A	GRCh38
NC_000022.10:g.41911755G>A , CM000684.1:g.41911755G>A	GRCh37
NC_000022.9:g.40241701G>A	NCBI36
NG_032143.1:g.51627G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001098.3:c.685-16G>A MANE Select	NP_001089.1:n.685-16G>A
ENST00000216254.9:c.685-16G>A MANE Select	ENSP00000216254.4:n.685-16G>A
NM_001098.2:c.685-16G>A	NP_001089.1:n.685-16G>A
ENST00000216254.8:c.685-16G>A	ENSP00000216254.4:n.685-16G>A
ENST00000396512.3:c.685-16G>A	ENSP00000379769.3:n.685-16G>A
ENST00000466237.2:c.685-16G>A	ENSP00000504719.1:n.685-16G>A
ENST00000478010.1:n.288-16G>A
ENST00000481310.1:n.24-16G>A
ENST00000676664.1:c.748-16G>A	ENSP00000503709.1:n.748-16G>A
ENST00000676714.1:c.*603-16G>A	ENSP00000504699.1:n.*603-16G>A
ENST00000676748.1:c.586-16G>A	ENSP00000503371.1:n.586-16G>A
ENST00000676792.1:c.520-16G>A	ENSP00000503590.1:n.520-16G>A
ENST00000676822.1:n.933-16G>A
ENST00000676959.1:c.685-16G>A	ENSP00000504377.1:n.685-16G>A
ENST00000677007.1:c.685-16G>A	ENSP00000504634.1:n.685-16G>A
ENST00000677153.1:c.586-16G>A	ENSP00000504453.1:n.586-16G>A
ENST00000677427.1:n.715-16G>A
ENST00000677516.1:c.685-16G>A	ENSP00000503370.1:n.685-16G>A
ENST00000677532.1:c.709-16G>A	ENSP00000503471.1:n.709-16G>A
ENST00000677554.1:c.685-16G>A	ENSP00000504513.1:n.685-16G>A
ENST00000677698.1:c.1058-16G>A
ENST00000678269.1:c.685-16G>A	ENSP00000504150.1:n.685-16G>A
ENST00000678394.1:n.862-16G>A
ENST00000678454.1:n.715-16G>A
ENST00000678600.1:n.726-16G>A
ENST00000678688.1:c.685-16G>A	ENSP00000503990.1:n.685-16G>A
ENST00000678788.1:c.685-16G>A	ENSP00000504684.1:n.685-16G>A
ENST00000678819.1:c.*548-16G>A	ENSP00000503199.1:n.*548-16G>A
ENST00000679264.1:n.714-16G>A
ENST00000679311.1:n.715-16G>A
ENST00000679320.1:c.685-16G>A	ENSP00000504780.1:n.685-16G>A
XM_017028812.1:c.586-16G>A	XP_016884301.1:n.586-16G>A
XM_024452250.1:c.685-16G>A	XP_024308018.1:n.685-16G>A