Canonical Allele Identifier: CA625037836

Gene: ATPAF2

Linked Data

• dbSNP Id: rs1382763888
• gnomAD v2: 17-17924564-C-A
• gnomAD v4: 17-18021250-C-A
• MyVariant Identifiers: chr17:g.17924564C>A (hg19) ; chr17:g.18021250C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18021250C>A , CM000679.2:g.18021250C>A	GRCh38
NC_000017.10:g.17924564C>A , CM000679.1:g.17924564C>A	GRCh37
NC_000017.9:g.17865289C>A	NCBI36
NG_012824.1:g.22917G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.617-12G>T MANE Select	ENSP00000417190.2:n.617-12G>T
ENST00000462733.5:c.*34-12G>T	ENSP00000463920.1:n.*34-12G>T
ENST00000465337.2:n.464G>T
ENST00000467560.5:n.15G>T
ENST00000469327.5:n.527-12G>T
ENST00000474627.7:c.617-12G>T	ENSP00000417190.2:n.617-12G>T
ENST00000488753.1:n.412-12G>T
ENST00000496852.5:n.1122-12G>T
ENST00000581698.1:c.49-2564G>T
ENST00000584205.5:c.*33+3374G>T	ENSP00000462899.1:n.*33+3374G>T
ENST00000585101.5:c.*33+3374G>T	ENSP00000463861.1:n.*33+3374G>T
NM_145691.3:c.617-12G>T	NP_663729.1:n.617-12G>T
XM_005256848.2:c.617-12G>T	XP_005256905.1:n.617-12G>T
XM_011524062.1:c.617-12G>T	XP_011522364.1:n.617-12G>T
XM_011524063.1:c.617-12G>T	XP_011522365.1:n.617-12G>T
XM_011524064.1:c.317-12G>T	XP_011522366.1:n.317-12G>T
XM_011524065.1:c.617-12G>T	XP_011522367.1:n.617-12G>T
XM_011524066.1:c.80-12G>T	XP_011522368.1:n.80-12G>T
XR_934116.1:n.1015-12G>T
XM_005256848.4:c.617-12G>T	XP_005256905.1:n.617-12G>T
XM_011524065.2:c.617-12G>T	XP_011522367.1:n.617-12G>T
XM_017025302.1:c.317-12G>T	XP_016880791.1:n.317-12G>T
XM_017025303.1:c.317-12G>T	XP_016880792.1:n.317-12G>T
XR_001752677.2:n.1014-12G>T
NM_145691.4:c.617-12G>T MANE Select	NP_663729.1:n.617-12G>T