Canonical Allele Identifier: CA2636423991

Gene: ATPAF2

Linked Data

• gnomAD v4: 17-18018240-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18018240C>A , CM000679.2:g.18018240C>A	GRCh38
NC_000017.10:g.17921554C>A , CM000679.1:g.17921554C>A	GRCh37
NC_000017.9:g.17862279C>A	NCBI36
NG_012824.1:g.25927G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.*309G>T MANE Select	ENSP00000417190.2:n.*309G>T
ENST00000462733.5:c.*150-1980G>T	ENSP00000463920.1:n.*150-1980G>T
ENST00000474627.7:c.*309G>T	ENSP00000417190.2:n.*309G>T
ENST00000584205.5:c.*33+6384G>T	ENSP00000462899.1:n.*33+6384G>T
ENST00000585101.5:c.*34-1980G>T	ENSP00000463861.1:n.*34-1980G>T
NM_145691.3:c.*309G>T	NP_663729.1:n.*309G>T
XM_011524062.1:c.732+2883G>T	XP_011522364.1:n.732+2883G>T
XM_011524063.1:c.732+2883G>T	XP_011522365.1:n.732+2883G>T
XM_011524064.1:c.432+2883G>T	XP_011522366.1:n.432+2883G>T
XM_011524065.1:c.733-1980G>T	XP_011522367.1:n.733-1980G>T
XM_011524066.1:c.195+2883G>T	XP_011522368.1:n.195+2883G>T
XM_011524065.2:c.733-1980G>T	XP_011522367.1:n.733-1980G>T
XM_017025303.1:c.433-1980G>T	XP_016880792.1:n.433-1980G>T
XR_001752677.2:n.1576G>T
NM_145691.4:c.*309G>T MANE Select	NP_663729.1:n.*309G>T