Canonical Allele Identifier: CA411725673

Gene: ACO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41523256C>T , CM000684.2:g.41523256C>T	GRCh38
NC_000022.10:g.41919260C>T , CM000684.1:g.41919260C>T	GRCh37
NC_000022.9:g.40249206C>T	NCBI36
NG_032143.1:g.59132C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001098.3:c.1348C>T MANE Select	NP_001089.1:p.Pro450Ser
ENST00000216254.9:c.1348C>T MANE Select	ENSP00000216254.4:p.Pro450Ser
NM_001098.2:c.1348C>T	NP_001089.1:p.Pro450Ser
ENST00000216254.8:c.1348C>T	ENSP00000216254.4:p.Pro450Ser
ENST00000396512.3:c.1423C>T	ENSP00000379769.3:p.Pro475Ser
ENST00000676664.1:c.1411C>T	ENSP00000503709.1:n.1411C>T
ENST00000676714.1:c.*1266C>T	ENSP00000504699.1:n.*1266C>T
ENST00000676748.1:c.1249C>T	ENSP00000503371.1:p.Pro417Ser
ENST00000676792.1:c.1183C>T	ENSP00000503590.1:p.Pro395Ser
ENST00000676822.1:n.1596C>T
ENST00000676959.1:c.1291+274C>T	ENSP00000504377.1:n.1291+274C>T
ENST00000677007.1:c.*123C>T	ENSP00000504634.1:n.*123C>T
ENST00000677153.1:c.1249C>T	ENSP00000504453.1:p.Pro417Ser
ENST00000677492.1:n.2307C>T
ENST00000677516.1:c.*747C>T	ENSP00000503370.1:n.*747C>T
ENST00000677532.1:c.1372C>T	ENSP00000503471.1:p.Pro458Ser
ENST00000677554.1:c.1348C>T	ENSP00000504513.1:p.Pro450Ser
ENST00000677698.1:c.1721C>T
ENST00000678269.1:c.1423C>T	ENSP00000504150.1:p.Pro475Ser
ENST00000678394.1:n.2063C>T
ENST00000678600.1:n.1389C>T
ENST00000678688.1:c.*584C>T	ENSP00000503990.1:n.*584C>T
ENST00000678788.1:c.1333C>T	ENSP00000504684.1:p.Pro445Ser
ENST00000678819.1:c.*1211C>T	ENSP00000503199.1:n.*1211C>T
ENST00000679264.1:n.2329C>T
ENST00000679284.1:n.1241C>T
ENST00000679311.1:n.1595C>T
ENST00000679320.1:c.1348C>T	ENSP00000504780.1:p.Pro450Ser
XM_017028812.1:c.1249C>T	XP_016884301.1:p.Pro417Ser
XM_024452250.1:c.1348C>T	XP_024308018.1:p.Pro450Ser