Canonical Allele Identifier: CA10257528

Gene: ACO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41518528C>T , CM000684.2:g.41518528C>T	GRCh38
NC_000022.10:g.41914532C>T , CM000684.1:g.41914532C>T	GRCh37
NC_000022.9:g.40244478C>T	NCBI36
NG_032143.1:g.54404C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001098.3:c.988C>T MANE Select	NP_001089.1:p.Pro330Ser
ENST00000216254.9:c.988C>T MANE Select	ENSP00000216254.4:p.Pro330Ser
NM_001098.2:c.988C>T	NP_001089.1:p.Pro330Ser
ENST00000216254.8:c.988C>T	ENSP00000216254.4:p.Pro330Ser
ENST00000396512.3:c.1063C>T	ENSP00000379769.3:p.Pro355Ser
ENST00000466237.1:n.305C>T
ENST00000466237.2:c.988C>T	ENSP00000504719.1:p.Pro330Ser
ENST00000676664.1:c.1051C>T	ENSP00000503709.1:n.1051C>T
ENST00000676714.1:c.*906C>T	ENSP00000504699.1:n.*906C>T
ENST00000676748.1:c.889C>T	ENSP00000503371.1:p.Pro297Ser
ENST00000676792.1:c.823C>T	ENSP00000503590.1:p.Pro275Ser
ENST00000676822.1:n.1236C>T
ENST00000676959.1:c.988C>T	ENSP00000504377.1:p.Pro330Ser
ENST00000677007.1:c.940+897C>T	ENSP00000504634.1:n.940+897C>T
ENST00000677153.1:c.889C>T	ENSP00000504453.1:p.Pro297Ser
ENST00000677427.1:n.1018C>T
ENST00000677492.1:n.1947C>T
ENST00000677516.1:c.*431+120C>T	ENSP00000503370.1:n.*431+120C>T
ENST00000677532.1:c.1012C>T	ENSP00000503471.1:p.Pro338Ser
ENST00000677554.1:c.988C>T	ENSP00000504513.1:p.Pro330Ser
ENST00000677698.1:c.1361C>T
ENST00000678269.1:c.1063C>T	ENSP00000504150.1:p.Pro355Ser
ENST00000678394.1:n.1703C>T
ENST00000678454.1:n.1556C>T
ENST00000678600.1:n.1029C>T
ENST00000678688.1:c.*224C>T	ENSP00000503990.1:n.*224C>T
ENST00000678788.1:c.973C>T	ENSP00000504684.1:p.Pro325Ser
ENST00000678819.1:c.*851C>T	ENSP00000503199.1:n.*851C>T
ENST00000679264.1:n.1969C>T
ENST00000679311.1:n.1018C>T
ENST00000679320.1:c.988C>T	ENSP00000504780.1:p.Pro330Ser
XM_017028812.1:c.889C>T	XP_016884301.1:p.Pro297Ser
XM_024452250.1:c.988C>T	XP_024308018.1:p.Pro330Ser