Canonical Allele Identifier: CA398573695

Gene: ATPAF2

Linked Data

• MyVariant Identifiers: chr17:g.17924450T>G (hg19) ; chr17:g.18021136T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18021136T>G , CM000679.2:g.18021136T>G	GRCh38
NC_000017.10:g.17924450T>G , CM000679.1:g.17924450T>G	GRCh37
NC_000017.9:g.17865175T>G	NCBI36
NG_012824.1:g.23031A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000474627.8:c.719A>C MANE Select	ENSP00000417190.2:p.Glu240Ala
ENST00000462733.5:c.*136A>C	ENSP00000463920.1:n.*136A>C
ENST00000465337.2:n.578A>C
ENST00000467560.5:n.129A>C
ENST00000469327.5:n.629A>C
ENST00000474627.7:c.719A>C	ENSP00000417190.2:p.Glu240Ala
ENST00000488753.1:n.514A>C
ENST00000496852.5:n.1224A>C
ENST00000581698.1:c.49-2450A>C
ENST00000584205.5:c.*33+3488A>C	ENSP00000462899.1:n.*33+3488A>C
ENST00000585101.5:c.*33+3488A>C	ENSP00000463861.1:n.*33+3488A>C
NM_145691.3:c.719A>C	NP_663729.1:p.Glu240Ala
XM_005256848.2:c.719A>C	XP_005256905.1:p.Glu240Ala
XM_011524062.1:c.719A>C	XP_011522364.1:p.Glu240Ala
XM_011524063.1:c.719A>C	XP_011522365.1:p.Glu240Ala
XM_011524064.1:c.419A>C	XP_011522366.1:p.Glu140Ala
XM_011524065.1:c.719A>C	XP_011522367.1:p.Glu240Ala
XM_011524066.1:c.182A>C	XP_011522368.1:p.Glu61Ala
XM_005256848.4:c.719A>C	XP_005256905.1:p.Glu240Ala
XM_011524065.2:c.719A>C	XP_011522367.1:p.Glu240Ala
XM_017025302.1:c.419A>C	XP_016880791.1:p.Glu140Ala
XM_017025303.1:c.419A>C	XP_016880792.1:p.Glu140Ala
XR_001752677.2:n.1116A>C
NM_145691.4:c.719A>C MANE Select	NP_663729.1:p.Glu240Ala