Canonical Allele Identifier: CA398578347

Gene: ATPAF2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18028276A>G , CM000679.2:g.18028276A>G	GRCh38
NC_000017.10:g.17931590A>G , CM000679.1:g.17931590A>G	GRCh37
NC_000017.9:g.17872315A>G	NCBI36
NG_012824.1:g.15891T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.280T>C MANE Select	ENSP00000417190.2:p.Trp94Arg
ENST00000444058.1:c.280T>C	ENSP00000397198.1:p.Trp94Arg
ENST00000462733.5:c.178+339T>C	ENSP00000463920.1:n.178+339T>C
ENST00000474627.7:c.280T>C	ENSP00000417190.2:p.Trp94Arg
ENST00000497871.1:n.468T>C
ENST00000577586.5:n.431T>C
ENST00000584205.5:c.178+339T>C	ENSP00000462899.1:n.178+339T>C
ENST00000585101.5:c.178+339T>C	ENSP00000463861.1:n.178+339T>C
NM_145691.3:c.280T>C	NP_663729.1:p.Trp94Arg
XM_005256848.2:c.280T>C	XP_005256905.1:p.Trp94Arg
XM_011524062.1:c.280T>C	XP_011522364.1:p.Trp94Arg
XM_011524063.1:c.280T>C	XP_011522365.1:p.Trp94Arg
XM_011524064.1:c.24+339T>C	XP_011522366.1:n.24+339T>C
XM_011524065.1:c.280T>C	XP_011522367.1:p.Trp94Arg
XR_934116.1:n.436T>C
XM_005256848.4:c.280T>C	XP_005256905.1:p.Trp94Arg
XM_011524065.2:c.280T>C	XP_011522367.1:p.Trp94Arg
XM_017025302.1:c.24+339T>C	XP_016880791.1:n.24+339T>C
XM_017025303.1:c.24+339T>C	XP_016880792.1:n.24+339T>C
XR_001752677.2:n.435T>C
NM_145691.4:c.280T>C MANE Select	NP_663729.1:p.Trp94Arg