Canonical Allele Identifier: CA10644988

Gene: ATPAF2

Linked Data

• ClinVar Variation Id: 322093
• ClinVar RCV Id: RCV000389215
• dbSNP Id: rs765325833
• gnomAD v2: 17-17921731-G-A
• gnomAD v3: 17-18018417-G-A
• gnomAD v4: 17-18018417-G-A
• MyVariant Identifiers: chr17:g.17921731G>A (hg19) ; chr17:g.18018417G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18018417G>A , CM000679.2:g.18018417G>A	GRCh38
NC_000017.10:g.17921731G>A , CM000679.1:g.17921731G>A	GRCh37
NC_000017.9:g.17862456G>A	NCBI36
NG_012824.1:g.25750C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.*132C>T MANE Select	ENSP00000417190.2:n.*132C>T
ENST00000462733.5:c.*150-2157C>T	ENSP00000463920.1:n.*150-2157C>T
ENST00000467560.5:n.412C>T
ENST00000474627.7:c.*132C>T	ENSP00000417190.2:n.*132C>T
ENST00000496852.5:n.1507C>T
ENST00000581698.1:c.318C>T
ENST00000584205.5:c.*33+6207C>T	ENSP00000462899.1:n.*33+6207C>T
ENST00000585101.5:c.*34-2157C>T	ENSP00000463861.1:n.*34-2157C>T
NM_145691.3:c.*132C>T	NP_663729.1:n.*132C>T
XM_011524062.1:c.732+2706C>T	XP_011522364.1:n.732+2706C>T
XM_011524063.1:c.732+2706C>T	XP_011522365.1:n.732+2706C>T
XM_011524064.1:c.432+2706C>T	XP_011522366.1:n.432+2706C>T
XM_011524065.1:c.733-2157C>T	XP_011522367.1:n.733-2157C>T
XM_011524066.1:c.195+2706C>T	XP_011522368.1:n.195+2706C>T
XM_011524065.2:c.733-2157C>T	XP_011522367.1:n.733-2157C>T
XM_017025302.1:c.*132C>T	XP_016880791.1:n.*132C>T
XM_017025303.1:c.433-2157C>T	XP_016880792.1:n.433-2157C>T
XR_001752677.2:n.1399C>T
NM_145691.4:c.*132C>T MANE Select	NP_663729.1:n.*132C>T