Canonical Allele Identifier: CA324332

Gene: ATPAF2

Linked Data

• ClinVar Variation Id: 214131
• ClinVar RCV Id: RCV001787327
• dbSNP Id: rs780166761
• ExAC: 17:17925109 C / T
• gnomAD v2: 17-17925109-C-T
• gnomAD v3: 17-18021795-C-T
• gnomAD v4: 17-18021795-C-T
• MyVariant Identifiers: chr17:g.17925109C>T (hg19) ; chr17:g.18021795C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18021795C>T , CM000679.2:g.18021795C>T	GRCh38
NC_000017.10:g.17925109C>T , CM000679.1:g.17925109C>T	GRCh37
NC_000017.9:g.17865834C>T	NCBI36
NG_012824.1:g.22372G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.566G>A MANE Select	ENSP00000417190.2:p.Arg189Gln
ENST00000444058.1:c.566G>A	ENSP00000397198.1:p.Arg189Gln
ENST00000462733.5:c.*34-557G>A	ENSP00000463920.1:n.*34-557G>A
ENST00000469327.5:n.234G>A
ENST00000474627.7:c.566G>A	ENSP00000417190.2:p.Arg189Gln
ENST00000488753.1:n.361G>A
ENST00000496852.5:n.1071G>A
ENST00000581698.1:c.48+2829G>A
ENST00000584205.5:c.*33+2829G>A	ENSP00000462899.1:n.*33+2829G>A
ENST00000585101.5:c.*33+2829G>A	ENSP00000463861.1:n.*33+2829G>A
NM_145691.3:c.566G>A	NP_663729.1:p.Arg189Gln
XM_005256848.2:c.566G>A	XP_005256905.1:p.Arg189Gln
XM_011524062.1:c.566G>A	XP_011522364.1:p.Arg189Gln
XM_011524063.1:c.566G>A	XP_011522365.1:p.Arg189Gln
XM_011524064.1:c.266G>A	XP_011522366.1:p.Arg89Gln
XM_011524065.1:c.566G>A	XP_011522367.1:p.Arg189Gln
XM_011524066.1:c.29G>A	XP_011522368.1:p.Arg10Gln
XR_934116.1:n.722G>A
XM_005256848.4:c.566G>A	XP_005256905.1:p.Arg189Gln
XM_011524065.2:c.566G>A	XP_011522367.1:p.Arg189Gln
XM_017025302.1:c.266G>A	XP_016880791.1:p.Arg89Gln
XM_017025303.1:c.266G>A	XP_016880792.1:p.Arg89Gln
XR_001752677.2:n.721G>A
NM_145691.4:c.566G>A MANE Select	NP_663729.1:p.Arg189Gln