Canonical Allele Identifier: CA10257527

Gene: ACO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41518527C>T , CM000684.2:g.41518527C>T	GRCh38
NC_000022.10:g.41914531C>T , CM000684.1:g.41914531C>T	GRCh37
NC_000022.9:g.40244477C>T	NCBI36
NG_032143.1:g.54403C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216254.9:c.987C>T MANE Select	ENSP00000216254.4:p.Asp329=
ENST00000466237.2:c.987C>T	ENSP00000504719.1:p.Asp329=
ENST00000676664.1:c.1050C>T	ENSP00000503709.1:n.1050C>T
ENST00000676714.1:c.*905C>T	ENSP00000504699.1:n.*905C>T
ENST00000676748.1:c.888C>T	ENSP00000503371.1:p.Asp296=
ENST00000676792.1:c.822C>T	ENSP00000503590.1:p.Asp274=
ENST00000676822.1:n.1235C>T
ENST00000676959.1:c.987C>T	ENSP00000504377.1:p.Asp329=
ENST00000677007.1:c.940+896C>T	ENSP00000504634.1:n.940+896C>T
ENST00000677153.1:c.888C>T	ENSP00000504453.1:p.Asp296=
ENST00000677427.1:n.1017C>T
ENST00000677492.1:n.1946C>T
ENST00000677516.1:c.*431+119C>T	ENSP00000503370.1:n.*431+119C>T
ENST00000677532.1:c.1011C>T	ENSP00000503471.1:p.Asp337=
ENST00000677554.1:c.987C>T	ENSP00000504513.1:p.Asp329=
ENST00000677698.1:c.1360C>T
ENST00000678269.1:c.1062C>T	ENSP00000504150.1:p.Asp354=
ENST00000678394.1:n.1702C>T
ENST00000678454.1:n.1555C>T
ENST00000678600.1:n.1028C>T
ENST00000678688.1:c.*223C>T	ENSP00000503990.1:n.*223C>T
ENST00000678788.1:c.972C>T	ENSP00000504684.1:p.Asp324=
ENST00000678819.1:c.*850C>T	ENSP00000503199.1:n.*850C>T
ENST00000679264.1:n.1968C>T
ENST00000679311.1:n.1017C>T
ENST00000679320.1:c.987C>T	ENSP00000504780.1:p.Asp329=
ENST00000216254.8:c.987C>T	ENSP00000216254.4:p.Asp329=
ENST00000396512.3:c.1062C>T	ENSP00000379769.3:p.Asp354=
ENST00000466237.1:n.304C>T
NM_001098.2:c.987C>T	NP_001089.1:p.Asp329=
XM_017028812.1:c.888C>T	XP_016884301.1:p.Asp296=
XM_024452250.1:c.987C>T	XP_024308018.1:p.Asp329=
NM_001098.3:c.987C>T MANE Select	NP_001089.1:p.Asp329=