Canonical Allele Identifier: CA398573681

Gene: ATPAF2

Linked Data

• MyVariant Identifiers: chr17:g.17924448C>A (hg19) ; chr17:g.18021134C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18021134C>A , CM000679.2:g.18021134C>A	GRCh38
NC_000017.10:g.17924448C>A , CM000679.1:g.17924448C>A	GRCh37
NC_000017.9:g.17865173C>A	NCBI36
NG_012824.1:g.23033G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000474627.8:c.721G>T MANE Select	ENSP00000417190.2:p.Glu241Ter
ENST00000462733.5:c.*138G>T	ENSP00000463920.1:n.*138G>T
ENST00000465337.2:n.580G>T
ENST00000467560.5:n.131G>T
ENST00000469327.5:n.631G>T
ENST00000474627.7:c.721G>T	ENSP00000417190.2:p.Glu241Ter
ENST00000488753.1:n.516G>T
ENST00000496852.5:n.1226G>T
ENST00000581698.1:c.49-2448G>T
ENST00000584205.5:c.*33+3490G>T	ENSP00000462899.1:n.*33+3490G>T
ENST00000585101.5:c.*33+3490G>T	ENSP00000463861.1:n.*33+3490G>T
NM_145691.3:c.721G>T	NP_663729.1:p.Glu241Ter
XM_005256848.2:c.721G>T	XP_005256905.1:p.Glu241Ter
XM_011524062.1:c.721G>T	XP_011522364.1:p.Glu241Ter
XM_011524063.1:c.721G>T	XP_011522365.1:p.Glu241Ter
XM_011524064.1:c.421G>T	XP_011522366.1:p.Glu141Ter
XM_011524065.1:c.721G>T	XP_011522367.1:p.Glu241Ter
XM_011524066.1:c.184G>T	XP_011522368.1:p.Glu62Ter
XM_005256848.4:c.721G>T	XP_005256905.1:p.Glu241Ter
XM_011524065.2:c.721G>T	XP_011522367.1:p.Glu241Ter
XM_017025302.1:c.421G>T	XP_016880791.1:p.Glu141Ter
XM_017025303.1:c.421G>T	XP_016880792.1:p.Glu141Ter
XR_001752677.2:n.1118G>T
NM_145691.4:c.721G>T MANE Select	NP_663729.1:p.Glu241Ter