Canonical Allele Identifier: CA498198852

Gene: ATPAF2

Linked Data

• MyVariant Identifiers: chr17:g.17924452C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18021138C>A , CM000679.2:g.18021138C>A	GRCh38
NC_000017.10:g.17924452C>A , CM000679.1:g.17924452C>A	GRCh37
NC_000017.9:g.17865177C>A	NCBI36
NG_012824.1:g.23029G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.717G>T MANE Select	ENSP00000417190.2:p.Leu239=
ENST00000462733.5:c.*134G>T	ENSP00000463920.1:n.*134G>T
ENST00000465337.2:n.576G>T
ENST00000467560.5:n.127G>T
ENST00000469327.5:n.627G>T
ENST00000474627.7:c.717G>T	ENSP00000417190.2:p.Leu239=
ENST00000488753.1:n.512G>T
ENST00000496852.5:n.1222G>T
ENST00000581698.1:c.49-2452G>T
ENST00000584205.5:c.*33+3486G>T	ENSP00000462899.1:n.*33+3486G>T
ENST00000585101.5:c.*33+3486G>T	ENSP00000463861.1:n.*33+3486G>T
NM_145691.3:c.717G>T	NP_663729.1:p.Leu239=
XM_005256848.2:c.717G>T	XP_005256905.1:p.Leu239=
XM_011524062.1:c.717G>T	XP_011522364.1:p.Leu239=
XM_011524063.1:c.717G>T	XP_011522365.1:p.Leu239=
XM_011524064.1:c.417G>T	XP_011522366.1:p.Leu139=
XM_011524065.1:c.717G>T	XP_011522367.1:p.Leu239=
XM_011524066.1:c.180G>T	XP_011522368.1:p.Leu60=
XM_005256848.4:c.717G>T	XP_005256905.1:p.Leu239=
XM_011524065.2:c.717G>T	XP_011522367.1:p.Leu239=
XM_017025302.1:c.417G>T	XP_016880791.1:p.Leu139=
XM_017025303.1:c.417G>T	XP_016880792.1:p.Leu139=
XR_001752677.2:n.1114G>T
NM_145691.4:c.717G>T MANE Select	NP_663729.1:p.Leu239=