Canonical Allele Identifier: CA2580092629

Gene: ATPAF2

Linked Data

• ClinVar Variation Id: 2004209
• ClinVar RCV Id: RCV002828203

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18021135dup , CM000679.2:g.18021135dup	GRCh38
NC_000017.10:g.17924449dup , CM000679.1:g.17924449dup	GRCh37
NC_000017.9:g.17865174dup	NCBI36
NG_012824.1:g.23033dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.721dup MANE Select	ENSP00000417190.2:p.Glu241GlyfsTer12
ENST00000462733.5:c.*138dup	ENSP00000463920.1:n.*138dup
ENST00000465337.2:n.580dup
ENST00000467560.5:n.131dup
ENST00000469327.5:n.631dup
ENST00000474627.7:c.721dup	ENSP00000417190.2:p.Glu241GlyfsTer12
ENST00000488753.1:n.516dup
ENST00000496852.5:n.1226dup
ENST00000581698.1:c.49-2448dup
ENST00000584205.5:c.*33+3490dup	ENSP00000462899.1:n.*33+3490dup
ENST00000585101.5:c.*33+3490dup	ENSP00000463861.1:n.*33+3490dup
NM_145691.3:c.721dup	NP_663729.1:p.Glu241GlyfsTer12
XM_005256848.2:c.721dup	XP_005256905.1:p.Glu241GlyfsTer?
XM_011524062.1:c.721dup	XP_011522364.1:p.Glu241GlyfsTer7
XM_011524063.1:c.721dup	XP_011522365.1:p.Glu241GlyfsTer7
XM_011524064.1:c.421dup	XP_011522366.1:p.Glu141GlyfsTer7
XM_011524065.1:c.721dup	XP_011522367.1:p.Glu241GlyfsTer19
XM_011524066.1:c.184dup	XP_011522368.1:p.Glu62GlyfsTer7
XM_005256848.4:c.721dup	XP_005256905.1:p.Glu241GlyfsTer?
XM_011524065.2:c.721dup	XP_011522367.1:p.Glu241GlyfsTer19
XM_017025302.1:c.421dup	XP_016880791.1:p.Glu141GlyfsTer12
XM_017025303.1:c.421dup	XP_016880792.1:p.Glu141GlyfsTer19
XR_001752677.2:n.1118dup
NM_145691.4:c.721dup MANE Select	NP_663729.1:p.Glu241GlyfsTer12