Canonical Allele Identifier: CA498198972

Gene: ATPAF2

Linked Data

• dbSNP Id: rs2044465451
• MyVariant Identifiers: chr17:g.17924545C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18021231C>T , CM000679.2:g.18021231C>T	GRCh38
NC_000017.10:g.17924545C>T , CM000679.1:g.17924545C>T	GRCh37
NC_000017.9:g.17865270C>T	NCBI36
NG_012824.1:g.22936G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.624G>A MANE Select	ENSP00000417190.2:p.Glu208=
ENST00000462733.5:c.*41G>A	ENSP00000463920.1:n.*41G>A
ENST00000465337.2:n.483G>A
ENST00000467560.5:n.34G>A
ENST00000469327.5:n.534G>A
ENST00000474627.7:c.624G>A	ENSP00000417190.2:p.Glu208=
ENST00000488753.1:n.419G>A
ENST00000496852.5:n.1129G>A
ENST00000581698.1:c.49-2545G>A
ENST00000584205.5:c.*33+3393G>A	ENSP00000462899.1:n.*33+3393G>A
ENST00000585101.5:c.*33+3393G>A	ENSP00000463861.1:n.*33+3393G>A
NM_145691.3:c.624G>A	NP_663729.1:p.Glu208=
XM_005256848.2:c.624G>A	XP_005256905.1:p.Glu208=
XM_011524062.1:c.624G>A	XP_011522364.1:p.Glu208=
XM_011524063.1:c.624G>A	XP_011522365.1:p.Glu208=
XM_011524064.1:c.324G>A	XP_011522366.1:p.Glu108=
XM_011524065.1:c.624G>A	XP_011522367.1:p.Glu208=
XM_011524066.1:c.87G>A	XP_011522368.1:p.Glu29=
XR_934116.1:n.1022G>A
XM_005256848.4:c.624G>A	XP_005256905.1:p.Glu208=
XM_011524065.2:c.624G>A	XP_011522367.1:p.Glu208=
XM_017025302.1:c.324G>A	XP_016880791.1:p.Glu108=
XM_017025303.1:c.324G>A	XP_016880792.1:p.Glu108=
XR_001752677.2:n.1021G>A
NM_145691.4:c.624G>A MANE Select	NP_663729.1:p.Glu208=