Canonical Allele Identifier: CA398574514

Gene: ATPAF2

Linked Data

• MyVariant Identifiers: chr17:g.17924550T>A (hg19) ; chr17:g.18021236T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18021236T>A , CM000679.2:g.18021236T>A	GRCh38
NC_000017.10:g.17924550T>A , CM000679.1:g.17924550T>A	GRCh37
NC_000017.9:g.17865275T>A	NCBI36
NG_012824.1:g.22931A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.619A>T MANE Select	ENSP00000417190.2:p.Ile207Phe
ENST00000462733.5:c.*36A>T	ENSP00000463920.1:n.*36A>T
ENST00000465337.2:n.478A>T
ENST00000467560.5:n.29A>T
ENST00000469327.5:n.529A>T
ENST00000474627.7:c.619A>T	ENSP00000417190.2:p.Ile207Phe
ENST00000488753.1:n.414A>T
ENST00000496852.5:n.1124A>T
ENST00000581698.1:c.49-2550A>T
ENST00000584205.5:c.*33+3388A>T	ENSP00000462899.1:n.*33+3388A>T
ENST00000585101.5:c.*33+3388A>T	ENSP00000463861.1:n.*33+3388A>T
NM_145691.3:c.619A>T	NP_663729.1:p.Ile207Phe
XM_005256848.2:c.619A>T	XP_005256905.1:p.Ile207Phe
XM_011524062.1:c.619A>T	XP_011522364.1:p.Ile207Phe
XM_011524063.1:c.619A>T	XP_011522365.1:p.Ile207Phe
XM_011524064.1:c.319A>T	XP_011522366.1:p.Ile107Phe
XM_011524065.1:c.619A>T	XP_011522367.1:p.Ile207Phe
XM_011524066.1:c.82A>T	XP_011522368.1:p.Ile28Phe
XR_934116.1:n.1017A>T
XM_005256848.4:c.619A>T	XP_005256905.1:p.Ile207Phe
XM_011524065.2:c.619A>T	XP_011522367.1:p.Ile207Phe
XM_017025302.1:c.319A>T	XP_016880791.1:p.Ile107Phe
XM_017025303.1:c.319A>T	XP_016880792.1:p.Ile107Phe
XR_001752677.2:n.1016A>T
NM_145691.4:c.619A>T MANE Select	NP_663729.1:p.Ile207Phe