Canonical Allele Identifier: CA398574450

Gene: ATPAF2

Linked Data

• gnomAD v4: 17-18021229-A-G
• MyVariant Identifiers: chr17:g.17924543A>G (hg19) ; chr17:g.18021229A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.626T>C MANE Select	ENSP00000417190.2:p.Phe209Ser
ENST00000462733.5:c.*43T>C	ENSP00000463920.1:n.*43T>C
ENST00000465337.2:n.485T>C
ENST00000467560.5:n.36T>C
ENST00000469327.5:n.536T>C
ENST00000474627.7:c.626T>C	ENSP00000417190.2:p.Phe209Ser
ENST00000488753.1:n.421T>C
ENST00000496852.5:n.1131T>C
ENST00000581698.1:c.49-2543T>C
ENST00000584205.5:c.*33+3395T>C	ENSP00000462899.1:n.*33+3395T>C
ENST00000585101.5:c.*33+3395T>C	ENSP00000463861.1:n.*33+3395T>C
NM_145691.3:c.626T>C	NP_663729.1:p.Phe209Ser
XM_005256848.2:c.626T>C	XP_005256905.1:p.Phe209Ser
XM_011524062.1:c.626T>C	XP_011522364.1:p.Phe209Ser
XM_011524063.1:c.626T>C	XP_011522365.1:p.Phe209Ser
XM_011524064.1:c.326T>C	XP_011522366.1:p.Phe109Ser
XM_011524065.1:c.626T>C	XP_011522367.1:p.Phe209Ser
XM_011524066.1:c.89T>C	XP_011522368.1:p.Phe30Ser
XR_934116.1:n.1024T>C
XM_005256848.4:c.626T>C	XP_005256905.1:p.Phe209Ser
XM_011524065.2:c.626T>C	XP_011522367.1:p.Phe209Ser
XM_017025302.1:c.326T>C	XP_016880791.1:p.Phe109Ser
XM_017025303.1:c.326T>C	XP_016880792.1:p.Phe109Ser
XR_001752677.2:n.1023T>C
NM_145691.4:c.626T>C MANE Select	NP_663729.1:p.Phe209Ser