Canonical Allele Identifier: CA2636423985

Gene: ATPAF2

Linked Data

• gnomAD v4: 17-18018230-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18018230C>T , CM000679.2:g.18018230C>T	GRCh38
NC_000017.10:g.17921544C>T , CM000679.1:g.17921544C>T	GRCh37
NC_000017.9:g.17862269C>T	NCBI36
NG_012824.1:g.25937G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000474627.8:c.*319G>A MANE Select	ENSP00000417190.2:n.*319G>A
ENST00000462733.5:c.*150-1970G>A	ENSP00000463920.1:n.*150-1970G>A
ENST00000474627.7:c.*319G>A	ENSP00000417190.2:n.*319G>A
ENST00000584205.5:c.*33+6394G>A	ENSP00000462899.1:n.*33+6394G>A
ENST00000585101.5:c.*34-1970G>A	ENSP00000463861.1:n.*34-1970G>A
NM_145691.3:c.*319G>A	NP_663729.1:n.*319G>A
XM_011524062.1:c.732+2893G>A	XP_011522364.1:n.732+2893G>A
XM_011524063.1:c.732+2893G>A	XP_011522365.1:n.732+2893G>A
XM_011524064.1:c.432+2893G>A	XP_011522366.1:n.432+2893G>A
XM_011524065.1:c.733-1970G>A	XP_011522367.1:n.733-1970G>A
XM_011524066.1:c.195+2893G>A	XP_011522368.1:n.195+2893G>A
XM_011524065.2:c.733-1970G>A	XP_011522367.1:n.733-1970G>A
XM_017025303.1:c.433-1970G>A	XP_016880792.1:n.433-1970G>A
XR_001752677.2:n.1586G>A
NM_145691.4:c.*319G>A MANE Select	NP_663729.1:n.*319G>A