Canonical Allele Identifier: CA16043573

Gene: ACO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41499765C>T , CM000684.2:g.41499765C>T	GRCh38
NC_000022.10:g.41895769C>T , CM000684.1:g.41895769C>T	GRCh37
NC_000022.9:g.40225715C>T	NCBI36
NG_032143.1:g.35641C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001098.3:c.76C>T MANE Select	NP_001089.1:p.Leu26=
ENST00000216254.9:c.76C>T MANE Select	ENSP00000216254.4:p.Leu26=
NM_001098.2:c.76C>T	NP_001089.1:p.Leu26=
ENST00000216254.8:c.76C>T	ENSP00000216254.4:p.Leu26=
ENST00000396512.3:c.76C>T	ENSP00000379769.3:p.Leu26=
ENST00000466237.2:c.76C>T	ENSP00000504719.1:p.Leu26=
ENST00000471094.1:n.350-8026C>T
ENST00000676664.1:c.22C>T	ENSP00000503709.1:p.Leu8=
ENST00000676714.1:c.76C>T	ENSP00000504699.1:p.Leu26=
ENST00000676748.1:c.-24C>T	ENSP00000503371.1:n.-24C>T
ENST00000676792.1:c.-232C>T	ENSP00000503590.1:n.-232C>T
ENST00000676822.1:n.324C>T
ENST00000676959.1:c.76C>T	ENSP00000504377.1:p.Leu26=
ENST00000677007.1:c.76C>T	ENSP00000504634.1:p.Leu26=
ENST00000677153.1:c.-24C>T	ENSP00000504453.1:n.-24C>T
ENST00000677427.1:n.106C>T
ENST00000677516.1:c.76C>T	ENSP00000503370.1:p.Leu26=
ENST00000677532.1:c.198-8026C>T	ENSP00000503471.1:n.198-8026C>T
ENST00000677554.1:c.76C>T	ENSP00000504513.1:p.Leu26=
ENST00000677698.1:c.182C>T
ENST00000678269.1:c.76C>T	ENSP00000504150.1:p.Leu26=
ENST00000678394.1:n.111C>T
ENST00000678454.1:n.106C>T
ENST00000678600.1:n.117C>T
ENST00000678688.1:c.76C>T	ENSP00000503990.1:p.Leu26=
ENST00000678788.1:c.76C>T	ENSP00000504684.1:p.Leu26=
ENST00000678819.1:c.76C>T	ENSP00000503199.1:p.Leu26=
ENST00000679264.1:n.203-8026C>T
ENST00000679311.1:n.106C>T
ENST00000679320.1:c.76C>T	ENSP00000504780.1:p.Leu26=
XM_017028812.1:c.-24C>T	XP_016884301.1:n.-24C>T
XM_024452250.1:c.76C>T	XP_024308018.1:p.Leu26=