Canonical Allele Identifier: CA10257505

Gene: ACO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41518430A>C , CM000684.2:g.41518430A>C	GRCh38
NC_000022.10:g.41914434A>C , CM000684.1:g.41914434A>C	GRCh37
NC_000022.9:g.40244380A>C	NCBI36
NG_032143.1:g.54306A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001098.3:c.941-51A>C MANE Select	NP_001089.1:n.941-51A>C
ENST00000216254.9:c.941-51A>C MANE Select	ENSP00000216254.4:n.941-51A>C
NM_001098.2:c.941-51A>C	NP_001089.1:n.941-51A>C
ENST00000216254.8:c.941-51A>C	ENSP00000216254.4:n.941-51A>C
ENST00000396512.3:c.1016-51A>C	ENSP00000379769.3:n.1016-51A>C
ENST00000466237.1:n.258-51A>C
ENST00000466237.2:c.941-51A>C	ENSP00000504719.1:n.941-51A>C
ENST00000676664.1:c.1004-51A>C	ENSP00000503709.1:n.1004-51A>C
ENST00000676714.1:c.*859-51A>C	ENSP00000504699.1:n.*859-51A>C
ENST00000676748.1:c.842-51A>C	ENSP00000503371.1:n.842-51A>C
ENST00000676792.1:c.776-51A>C	ENSP00000503590.1:n.776-51A>C
ENST00000676822.1:n.1189-51A>C
ENST00000676959.1:c.941-51A>C	ENSP00000504377.1:n.941-51A>C
ENST00000677007.1:c.940+799A>C	ENSP00000504634.1:n.940+799A>C
ENST00000677153.1:c.842-51A>C	ENSP00000504453.1:n.842-51A>C
ENST00000677427.1:n.971-51A>C
ENST00000677492.1:n.1849A>C
ENST00000677516.1:c.*431+22A>C	ENSP00000503370.1:n.*431+22A>C
ENST00000677532.1:c.965-51A>C	ENSP00000503471.1:n.965-51A>C
ENST00000677554.1:c.941-51A>C	ENSP00000504513.1:n.941-51A>C
ENST00000677698.1:c.1314-51A>C
ENST00000678269.1:c.1016-51A>C	ENSP00000504150.1:n.1016-51A>C
ENST00000678394.1:n.1605A>C
ENST00000678454.1:n.1458A>C
ENST00000678600.1:n.982-51A>C
ENST00000678688.1:c.*177-51A>C	ENSP00000503990.1:n.*177-51A>C
ENST00000678788.1:c.941-66A>C	ENSP00000504684.1:n.941-66A>C
ENST00000678819.1:c.*804-51A>C	ENSP00000503199.1:n.*804-51A>C
ENST00000679264.1:n.1871A>C
ENST00000679311.1:n.971-51A>C
ENST00000679320.1:c.941-51A>C	ENSP00000504780.1:n.941-51A>C
XM_017028812.1:c.842-51A>C	XP_016884301.1:n.842-51A>C
XM_024452250.1:c.941-51A>C	XP_024308018.1:n.941-51A>C