Canonical Allele Identifier: CA10257643

Gene: ACO2

Linked Data

• ClinVar Variation Id: 374007
• ClinVar RCV Id: RCV000415400
• dbSNP Id: rs746964497
• ExAC: 22:41919858 G / C
• gnomAD v2: 22-41919858-G-C
• gnomAD v4: 22-41523854-G-C
• MyVariant Identifiers: chr22:g.41919858G>C (hg19) ; chr22:g.41523854G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216254.9:c.1395G>C MANE Select	ENSP00000216254.4:p.Lys465Asn
ENST00000676664.1:c.1458G>C	ENSP00000503709.1:n.1458G>C
ENST00000676714.1:c.*1313G>C	ENSP00000504699.1:n.*1313G>C
ENST00000676748.1:c.1296G>C	ENSP00000503371.1:p.Lys432Asn
ENST00000676792.1:c.1230G>C	ENSP00000503590.1:p.Lys410Asn
ENST00000676822.1:n.1643G>C
ENST00000676883.1:n.501G>C
ENST00000676959.1:c.1316G>C	ENSP00000504377.1:p.Arg439Thr
ENST00000677007.1:c.*170G>C	ENSP00000504634.1:n.*170G>C
ENST00000677153.1:c.1296G>C	ENSP00000504453.1:p.Lys432Asn
ENST00000677492.1:n.2354G>C
ENST00000677516.1:c.*794G>C	ENSP00000503370.1:n.*794G>C
ENST00000677532.1:c.1419G>C	ENSP00000503471.1:p.Lys473Asn
ENST00000677554.1:c.1395G>C	ENSP00000504513.1:p.Lys465Asn
ENST00000677698.1:c.1768G>C
ENST00000678269.1:c.1470G>C	ENSP00000504150.1:p.Lys490Asn
ENST00000678394.1:n.2110G>C
ENST00000678600.1:n.1436G>C
ENST00000678688.1:c.*631G>C	ENSP00000503990.1:n.*631G>C
ENST00000678788.1:c.1380G>C	ENSP00000504684.1:p.Lys460Asn
ENST00000678819.1:c.*1258G>C	ENSP00000503199.1:n.*1258G>C
ENST00000679264.1:n.2376G>C
ENST00000679284.1:n.1288G>C
ENST00000679311.1:n.1642G>C
ENST00000679320.1:c.1395G>C	ENSP00000504780.1:p.Lys465Asn
ENST00000216254.8:c.1395G>C	ENSP00000216254.4:p.Lys465Asn
ENST00000396512.3:c.1470G>C	ENSP00000379769.3:p.Lys490Asn
NM_001098.2:c.1395G>C	NP_001089.1:p.Lys465Asn
XM_017028812.1:c.1296G>C	XP_016884301.1:p.Lys432Asn
XM_024452250.1:c.1395G>C	XP_024308018.1:p.Lys465Asn
NM_001098.3:c.1395G>C MANE Select	NP_001089.1:p.Lys465Asn