Canonical Allele Identifier: CA398574449

Gene: ATPAF2

Linked Data

• MyVariant Identifiers: chr17:g.17924543A>C (hg19) ; chr17:g.18021229A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18021229A>C , CM000679.2:g.18021229A>C	GRCh38
NC_000017.10:g.17924543A>C , CM000679.1:g.17924543A>C	GRCh37
NC_000017.9:g.17865268A>C	NCBI36
NG_012824.1:g.22938T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.626T>G MANE Select	ENSP00000417190.2:p.Phe209Cys
ENST00000462733.5:c.*43T>G	ENSP00000463920.1:n.*43T>G
ENST00000465337.2:n.485T>G
ENST00000467560.5:n.36T>G
ENST00000469327.5:n.536T>G
ENST00000474627.7:c.626T>G	ENSP00000417190.2:p.Phe209Cys
ENST00000488753.1:n.421T>G
ENST00000496852.5:n.1131T>G
ENST00000581698.1:c.49-2543T>G
ENST00000584205.5:c.*33+3395T>G	ENSP00000462899.1:n.*33+3395T>G
ENST00000585101.5:c.*33+3395T>G	ENSP00000463861.1:n.*33+3395T>G
NM_145691.3:c.626T>G	NP_663729.1:p.Phe209Cys
XM_005256848.2:c.626T>G	XP_005256905.1:p.Phe209Cys
XM_011524062.1:c.626T>G	XP_011522364.1:p.Phe209Cys
XM_011524063.1:c.626T>G	XP_011522365.1:p.Phe209Cys
XM_011524064.1:c.326T>G	XP_011522366.1:p.Phe109Cys
XM_011524065.1:c.626T>G	XP_011522367.1:p.Phe209Cys
XM_011524066.1:c.89T>G	XP_011522368.1:p.Phe30Cys
XR_934116.1:n.1024T>G
XM_005256848.4:c.626T>G	XP_005256905.1:p.Phe209Cys
XM_011524065.2:c.626T>G	XP_011522367.1:p.Phe209Cys
XM_017025302.1:c.326T>G	XP_016880791.1:p.Phe109Cys
XM_017025303.1:c.326T>G	XP_016880792.1:p.Phe109Cys
XR_001752677.2:n.1023T>G
NM_145691.4:c.626T>G MANE Select	NP_663729.1:p.Phe209Cys