Canonical Allele Identifier: CA2576188781

Gene: ATPAF2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18021261A>G , CM000679.2:g.18021261A>G	GRCh38
NC_000017.10:g.17924575A>G , CM000679.1:g.17924575A>G	GRCh37
NC_000017.9:g.17865300A>G	NCBI36
NG_012824.1:g.22906T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.617-23T>C MANE Select	ENSP00000417190.2:n.617-23T>C
ENST00000462733.5:c.*34-23T>C	ENSP00000463920.1:n.*34-23T>C
ENST00000465337.2:n.453T>C
ENST00000467560.5:n.4T>C
ENST00000469327.5:n.527-23T>C
ENST00000474627.7:c.617-23T>C	ENSP00000417190.2:n.617-23T>C
ENST00000488753.1:n.412-23T>C
ENST00000496852.5:n.1122-23T>C
ENST00000581698.1:c.49-2575T>C
ENST00000584205.5:c.*33+3363T>C	ENSP00000462899.1:n.*33+3363T>C
ENST00000585101.5:c.*33+3363T>C	ENSP00000463861.1:n.*33+3363T>C
NM_145691.3:c.617-23T>C	NP_663729.1:n.617-23T>C
XM_005256848.2:c.617-23T>C	XP_005256905.1:n.617-23T>C
XM_011524062.1:c.617-23T>C	XP_011522364.1:n.617-23T>C
XM_011524063.1:c.617-23T>C	XP_011522365.1:n.617-23T>C
XM_011524064.1:c.317-23T>C	XP_011522366.1:n.317-23T>C
XM_011524065.1:c.617-23T>C	XP_011522367.1:n.617-23T>C
XM_011524066.1:c.80-23T>C	XP_011522368.1:n.80-23T>C
XR_934116.1:n.1015-23T>C
XM_005256848.4:c.617-23T>C	XP_005256905.1:n.617-23T>C
XM_011524065.2:c.617-23T>C	XP_011522367.1:n.617-23T>C
XM_017025302.1:c.317-23T>C	XP_016880791.1:n.317-23T>C
XM_017025303.1:c.317-23T>C	XP_016880792.1:n.317-23T>C
XR_001752677.2:n.1014-23T>C
NM_145691.4:c.617-23T>C MANE Select	NP_663729.1:n.617-23T>C