Canonical Allele Identifier: CA289606

Gene: ATPAF2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18018681C>T , CM000679.2:g.18018681C>T	GRCh38
NC_000017.10:g.17921995C>T , CM000679.1:g.17921995C>T	GRCh37
NC_000017.9:g.17862720C>T	NCBI36
NG_012824.1:g.25486G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.738G>A MANE Select	ENSP00000417190.2:p.Gln246=
ENST00000462733.5:c.*150-2421G>A	ENSP00000463920.1:n.*150-2421G>A
ENST00000467560.5:n.148G>A
ENST00000469327.5:n.648G>A
ENST00000474627.7:c.738G>A	ENSP00000417190.2:p.Gln246=
ENST00000496852.5:n.1243G>A
ENST00000581698.1:c.54G>A
ENST00000584205.5:c.*33+5943G>A	ENSP00000462899.1:n.*33+5943G>A
ENST00000585101.5:c.*34-2421G>A	ENSP00000463861.1:n.*34-2421G>A
NM_145691.3:c.738G>A	NP_663729.1:p.Gln246=
XM_011524062.1:c.732+2442G>A	XP_011522364.1:n.732+2442G>A
XM_011524063.1:c.732+2442G>A	XP_011522365.1:n.732+2442G>A
XM_011524064.1:c.432+2442G>A	XP_011522366.1:n.432+2442G>A
XM_011524065.1:c.733-2421G>A	XP_011522367.1:n.733-2421G>A
XM_011524066.1:c.195+2442G>A	XP_011522368.1:n.195+2442G>A
XM_011524065.2:c.733-2421G>A	XP_011522367.1:n.733-2421G>A
XM_017025302.1:c.438G>A	XP_016880791.1:p.Gln146=
XM_017025303.1:c.433-2421G>A	XP_016880792.1:n.433-2421G>A
XR_001752677.2:n.1135G>A
NM_145691.4:c.738G>A MANE Select	NP_663729.1:p.Gln246=