Canonical Allele Identifier: CA323544

Gene: ATPAF2

Linked Data

• ClinVar Variation Id: 214139
• ClinVar RCV Id: RCV000199001 ; RCV000288052
• dbSNP Id: rs759676953
• ExAC: 17:17929666 G / T
• gnomAD v2: 17-17929666-G-T
• gnomAD v4: 17-18026352-G-T
• MyVariant Identifiers: chr17:g.17929666G>T (hg19) ; chr17:g.18026352G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18026352G>T , CM000679.2:g.18026352G>T	GRCh38
NC_000017.10:g.17929666G>T , CM000679.1:g.17929666G>T	GRCh37
NC_000017.9:g.17870391G>T	NCBI36
NG_012824.1:g.17815C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000474627.8:c.389C>A MANE Select	ENSP00000417190.2:p.Ala130Glu
ENST00000444058.1:c.389C>A	ENSP00000397198.1:p.Ala130Glu
ENST00000462733.5:c.243C>A	ENSP00000463920.1:p.Gly81=
ENST00000474627.7:c.389C>A	ENSP00000417190.2:p.Ala130Glu
ENST00000488753.1:n.184C>A
ENST00000584205.5:c.243C>A	ENSP00000462899.1:p.Gly81=
ENST00000585101.5:c.243C>A	ENSP00000463861.1:p.Gly81=
NM_145691.3:c.389C>A	NP_663729.1:p.Ala130Glu
XM_005256848.2:c.389C>A	XP_005256905.1:p.Ala130Glu
XM_011524062.1:c.389C>A	XP_011522364.1:p.Ala130Glu
XM_011524063.1:c.389C>A	XP_011522365.1:p.Ala130Glu
XM_011524064.1:c.89C>A	XP_011522366.1:p.Ala30Glu
XM_011524065.1:c.389C>A	XP_011522367.1:p.Ala130Glu
XM_011524066.1:c.-149C>A	XP_011522368.1:n.-149C>A
XR_934116.1:n.545C>A
XM_005256848.4:c.389C>A	XP_005256905.1:p.Ala130Glu
XM_011524065.2:c.389C>A	XP_011522367.1:p.Ala130Glu
XM_017025302.1:c.89C>A	XP_016880791.1:p.Ala30Glu
XM_017025303.1:c.89C>A	XP_016880792.1:p.Ala30Glu
XR_001752677.2:n.544C>A
NM_145691.4:c.389C>A MANE Select	NP_663729.1:p.Ala130Glu