Canonical Allele Identifier: CA8421940

Gene: ATPAF2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18028306C>T , CM000679.2:g.18028306C>T	GRCh38
NC_000017.10:g.17931620C>T , CM000679.1:g.17931620C>T	GRCh37
NC_000017.9:g.17872345C>T	NCBI36
NG_012824.1:g.15861G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_145691.4:c.250G>A MANE Select	NP_663729.1:p.Glu84Lys
ENST00000474627.8:c.250G>A MANE Select	ENSP00000417190.2:p.Glu84Lys
NM_145691.3:c.250G>A	NP_663729.1:p.Glu84Lys
ENST00000444058.1:c.250G>A	ENSP00000397198.1:p.Glu84Lys
ENST00000462733.5:c.178+309G>A	ENSP00000463920.1:n.178+309G>A
ENST00000474627.7:c.250G>A	ENSP00000417190.2:p.Glu84Lys
ENST00000497871.1:n.438G>A
ENST00000577586.5:n.401G>A
ENST00000584205.5:c.178+309G>A	ENSP00000462899.1:n.178+309G>A
ENST00000585101.5:c.178+309G>A	ENSP00000463861.1:n.178+309G>A
XM_005256848.2:c.250G>A	XP_005256905.1:p.Glu84Lys
XM_005256848.4:c.250G>A	XP_005256905.1:p.Glu84Lys
XM_011524062.1:c.250G>A	XP_011522364.1:p.Glu84Lys
XM_011524063.1:c.250G>A	XP_011522365.1:p.Glu84Lys
XM_011524064.1:c.24+309G>A	XP_011522366.1:n.24+309G>A
XM_011524065.1:c.250G>A	XP_011522367.1:p.Glu84Lys
XM_011524065.2:c.250G>A	XP_011522367.1:p.Glu84Lys
XM_017025302.1:c.24+309G>A	XP_016880791.1:n.24+309G>A
XM_017025303.1:c.24+309G>A	XP_016880792.1:n.24+309G>A
XR_001752677.2:n.405G>A
XR_934116.1:n.406G>A