Canonical Allele Identifier: CA398580624

Gene: ATPAF2

Linked Data

• ClinVar Variation Id: 429844
• ClinVar RCV Id: RCV000494004 ; RCV002265781
• dbSNP Id: rs1131691631
• gnomAD v4: 17-18039006-C-T
• MyVariant Identifiers: chr17:g.17942320C>T (hg19) ; chr17:g.18039006C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18039006C>T , CM000679.2:g.18039006C>T	GRCh38
NC_000017.10:g.17942320C>T , CM000679.1:g.17942320C>T	GRCh37
NC_000017.9:g.17883045C>T	NCBI36
NG_012824.1:g.5161G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.8G>A MANE Select	ENSP00000417190.2:p.Arg3Lys
ENST00000444058.1:c.8G>A	ENSP00000397198.1:p.Arg3Lys
ENST00000462733.5:c.8G>A	ENSP00000463920.1:p.Arg3Lys
ENST00000474627.7:c.8G>A	ENSP00000417190.2:p.Arg3Lys
ENST00000497871.1:n.196G>A
ENST00000577586.5:n.159G>A
ENST00000584205.5:c.8G>A	ENSP00000462899.1:p.Arg3Lys
ENST00000585101.5:c.8G>A	ENSP00000463861.1:p.Arg3Lys
NM_145691.3:c.8G>A	NP_663729.1:p.Arg3Lys
XM_005256848.2:c.8G>A	XP_005256905.1:p.Arg3Lys
XM_011524062.1:c.8G>A	XP_011522364.1:p.Arg3Lys
XM_011524063.1:c.8G>A	XP_011522365.1:p.Arg3Lys
XM_011524064.1:c.-147G>A	XP_011522366.1:n.-147G>A
XM_011524065.1:c.8G>A	XP_011522367.1:p.Arg3Lys
XR_934116.1:n.164G>A
XM_005256848.4:c.8G>A	XP_005256905.1:p.Arg3Lys
XM_011524065.2:c.8G>A	XP_011522367.1:p.Arg3Lys
XM_017025302.1:c.-147G>A	XP_016880791.1:n.-147G>A
XM_017025303.1:c.-147G>A	XP_016880792.1:n.-147G>A
XR_001752677.2:n.163G>A
NM_145691.4:c.8G>A MANE Select	NP_663729.1:p.Arg3Lys