Canonical Allele Identifier: CA10648735

Gene: ATPAF2

Linked Data

• ClinVar Variation Id: 322091
• ClinVar RCV Id: RCV000260710
• dbSNP Id: rs143710995
• gnomAD v3: 17-18018355-G-T
• gnomAD v4: 17-18018355-G-T
• MyVariant Identifiers: chr17:g.17921669G>T (hg19) ; chr17:g.18018355G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18018355G>T , CM000679.2:g.18018355G>T	GRCh38
NC_000017.10:g.17921669G>T , CM000679.1:g.17921669G>T	GRCh37
NC_000017.9:g.17862394G>T	NCBI36
NG_012824.1:g.25812C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.*194C>A MANE Select	ENSP00000417190.2:n.*194C>A
ENST00000462733.5:c.*150-2095C>A	ENSP00000463920.1:n.*150-2095C>A
ENST00000467560.5:n.474C>A
ENST00000474627.7:c.*194C>A	ENSP00000417190.2:n.*194C>A
ENST00000496852.5:n.1569C>A
ENST00000581698.1:c.380C>A
ENST00000584205.5:c.*33+6269C>A	ENSP00000462899.1:n.*33+6269C>A
ENST00000585101.5:c.*34-2095C>A	ENSP00000463861.1:n.*34-2095C>A
NM_145691.3:c.*194C>A	NP_663729.1:n.*194C>A
XM_011524062.1:c.732+2768C>A	XP_011522364.1:n.732+2768C>A
XM_011524063.1:c.732+2768C>A	XP_011522365.1:n.732+2768C>A
XM_011524064.1:c.432+2768C>A	XP_011522366.1:n.432+2768C>A
XM_011524065.1:c.733-2095C>A	XP_011522367.1:n.733-2095C>A
XM_011524066.1:c.195+2768C>A	XP_011522368.1:n.195+2768C>A
XM_011524065.2:c.733-2095C>A	XP_011522367.1:n.733-2095C>A
XM_017025302.1:c.*194C>A	XP_016880791.1:n.*194C>A
XM_017025303.1:c.433-2095C>A	XP_016880792.1:n.433-2095C>A
XR_001752677.2:n.1461C>A
NM_145691.4:c.*194C>A MANE Select	NP_663729.1:n.*194C>A