Canonical Allele Identifier: CA2636413355

Gene: ATPAF2

Linked Data

• gnomAD v4: 17-18021289-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18021289C>G , CM000679.2:g.18021289C>G	GRCh38
NC_000017.10:g.17924603C>G , CM000679.1:g.17924603C>G	GRCh37
NC_000017.9:g.17865328C>G	NCBI36
NG_012824.1:g.22878G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.617-51G>C MANE Select	ENSP00000417190.2:n.617-51G>C
ENST00000462733.5:c.*34-51G>C	ENSP00000463920.1:n.*34-51G>C
ENST00000465337.2:n.425G>C
ENST00000469327.5:n.527-51G>C
ENST00000474627.7:c.617-51G>C	ENSP00000417190.2:n.617-51G>C
ENST00000488753.1:n.412-51G>C
ENST00000496852.5:n.1122-51G>C
ENST00000581698.1:c.49-2603G>C
ENST00000584205.5:c.*33+3335G>C	ENSP00000462899.1:n.*33+3335G>C
ENST00000585101.5:c.*33+3335G>C	ENSP00000463861.1:n.*33+3335G>C
NM_145691.3:c.617-51G>C	NP_663729.1:n.617-51G>C
XM_005256848.2:c.617-51G>C	XP_005256905.1:n.617-51G>C
XM_011524062.1:c.617-51G>C	XP_011522364.1:n.617-51G>C
XM_011524063.1:c.617-51G>C	XP_011522365.1:n.617-51G>C
XM_011524064.1:c.317-51G>C	XP_011522366.1:n.317-51G>C
XM_011524065.1:c.617-51G>C	XP_011522367.1:n.617-51G>C
XM_011524066.1:c.80-51G>C	XP_011522368.1:n.80-51G>C
XR_934116.1:n.1015-51G>C
XM_005256848.4:c.617-51G>C	XP_005256905.1:n.617-51G>C
XM_011524065.2:c.617-51G>C	XP_011522367.1:n.617-51G>C
XM_017025302.1:c.317-51G>C	XP_016880791.1:n.317-51G>C
XM_017025303.1:c.317-51G>C	XP_016880792.1:n.317-51G>C
XR_001752677.2:n.1014-51G>C
NM_145691.4:c.617-51G>C MANE Select	NP_663729.1:n.617-51G>C