Canonical Allele Identifier: CA411726797

Gene: ACO2

Linked Data

• MyVariant Identifiers: chr22:g.41919858G>T (hg19) ; chr22:g.41523854G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41523854G>T , CM000684.2:g.41523854G>T	GRCh38
NC_000022.10:g.41919858G>T , CM000684.1:g.41919858G>T	GRCh37
NC_000022.9:g.40249804G>T	NCBI36
NG_032143.1:g.59730G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216254.9:c.1395G>T MANE Select	ENSP00000216254.4:p.Lys465Asn
ENST00000676664.1:c.1458G>T	ENSP00000503709.1:n.1458G>T
ENST00000676714.1:c.*1313G>T	ENSP00000504699.1:n.*1313G>T
ENST00000676748.1:c.1296G>T	ENSP00000503371.1:p.Lys432Asn
ENST00000676792.1:c.1230G>T	ENSP00000503590.1:p.Lys410Asn
ENST00000676822.1:n.1643G>T
ENST00000676883.1:n.501G>T
ENST00000676959.1:c.1316G>T	ENSP00000504377.1:p.Arg439Ile
ENST00000677007.1:c.*170G>T	ENSP00000504634.1:n.*170G>T
ENST00000677153.1:c.1296G>T	ENSP00000504453.1:p.Lys432Asn
ENST00000677492.1:n.2354G>T
ENST00000677516.1:c.*794G>T	ENSP00000503370.1:n.*794G>T
ENST00000677532.1:c.1419G>T	ENSP00000503471.1:p.Lys473Asn
ENST00000677554.1:c.1395G>T	ENSP00000504513.1:p.Lys465Asn
ENST00000677698.1:c.1768G>T
ENST00000678269.1:c.1470G>T	ENSP00000504150.1:p.Lys490Asn
ENST00000678394.1:n.2110G>T
ENST00000678600.1:n.1436G>T
ENST00000678688.1:c.*631G>T	ENSP00000503990.1:n.*631G>T
ENST00000678788.1:c.1380G>T	ENSP00000504684.1:p.Lys460Asn
ENST00000678819.1:c.*1258G>T	ENSP00000503199.1:n.*1258G>T
ENST00000679264.1:n.2376G>T
ENST00000679284.1:n.1288G>T
ENST00000679311.1:n.1642G>T
ENST00000679320.1:c.1395G>T	ENSP00000504780.1:p.Lys465Asn
ENST00000216254.8:c.1395G>T	ENSP00000216254.4:p.Lys465Asn
ENST00000396512.3:c.1470G>T	ENSP00000379769.3:p.Lys490Asn
NM_001098.2:c.1395G>T	NP_001089.1:p.Lys465Asn
XM_017028812.1:c.1296G>T	XP_016884301.1:p.Lys432Asn
XM_024452250.1:c.1395G>T	XP_024308018.1:p.Lys465Asn
NM_001098.3:c.1395G>T MANE Select	NP_001089.1:p.Lys465Asn