Canonical Allele Identifier: CA498198963

Gene: ATPAF2

Linked Data

• gnomAD v4: 17-18021225-T-A
• MyVariant Identifiers: chr17:g.17924539T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18021225T>A , CM000679.2:g.18021225T>A	GRCh38
NC_000017.10:g.17924539T>A , CM000679.1:g.17924539T>A	GRCh37
NC_000017.9:g.17865264T>A	NCBI36
NG_012824.1:g.22942A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.630A>T MANE Select	ENSP00000417190.2:p.Val210=
ENST00000462733.5:c.*47A>T	ENSP00000463920.1:n.*47A>T
ENST00000465337.2:n.489A>T
ENST00000467560.5:n.40A>T
ENST00000469327.5:n.540A>T
ENST00000474627.7:c.630A>T	ENSP00000417190.2:p.Val210=
ENST00000488753.1:n.425A>T
ENST00000496852.5:n.1135A>T
ENST00000581698.1:c.49-2539A>T
ENST00000584205.5:c.*33+3399A>T	ENSP00000462899.1:n.*33+3399A>T
ENST00000585101.5:c.*33+3399A>T	ENSP00000463861.1:n.*33+3399A>T
NM_145691.3:c.630A>T	NP_663729.1:p.Val210=
XM_005256848.2:c.630A>T	XP_005256905.1:p.Val210=
XM_011524062.1:c.630A>T	XP_011522364.1:p.Val210=
XM_011524063.1:c.630A>T	XP_011522365.1:p.Val210=
XM_011524064.1:c.330A>T	XP_011522366.1:p.Val110=
XM_011524065.1:c.630A>T	XP_011522367.1:p.Val210=
XM_011524066.1:c.93A>T	XP_011522368.1:p.Val31=
XR_934116.1:n.1028A>T
XM_005256848.4:c.630A>T	XP_005256905.1:p.Val210=
XM_011524065.2:c.630A>T	XP_011522367.1:p.Val210=
XM_017025302.1:c.330A>T	XP_016880791.1:p.Val110=
XM_017025303.1:c.330A>T	XP_016880792.1:p.Val110=
XR_001752677.2:n.1027A>T
NM_145691.4:c.630A>T MANE Select	NP_663729.1:p.Val210=