Canonical Allele Identifier: CA398574379

Gene: ATPAF2

Linked Data

• gnomAD v4: 17-18021221-C-T
• MyVariant Identifiers: chr17:g.17924535C>T (hg19) ; chr17:g.18021221C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18021221C>T , CM000679.2:g.18021221C>T	GRCh38
NC_000017.10:g.17924535C>T , CM000679.1:g.17924535C>T	GRCh37
NC_000017.9:g.17865260C>T	NCBI36
NG_012824.1:g.22946G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.634G>A MANE Select	ENSP00000417190.2:p.Ala212Thr
ENST00000462733.5:c.*51G>A	ENSP00000463920.1:n.*51G>A
ENST00000465337.2:n.493G>A
ENST00000467560.5:n.44G>A
ENST00000469327.5:n.544G>A
ENST00000474627.7:c.634G>A	ENSP00000417190.2:p.Ala212Thr
ENST00000488753.1:n.429G>A
ENST00000496852.5:n.1139G>A
ENST00000581698.1:c.49-2535G>A
ENST00000584205.5:c.*33+3403G>A	ENSP00000462899.1:n.*33+3403G>A
ENST00000585101.5:c.*33+3403G>A	ENSP00000463861.1:n.*33+3403G>A
NM_145691.3:c.634G>A	NP_663729.1:p.Ala212Thr
XM_005256848.2:c.634G>A	XP_005256905.1:p.Ala212Thr
XM_011524062.1:c.634G>A	XP_011522364.1:p.Ala212Thr
XM_011524063.1:c.634G>A	XP_011522365.1:p.Ala212Thr
XM_011524064.1:c.334G>A	XP_011522366.1:p.Ala112Thr
XM_011524065.1:c.634G>A	XP_011522367.1:p.Ala212Thr
XM_011524066.1:c.97G>A	XP_011522368.1:p.Ala33Thr
XR_934116.1:n.1032G>A
XM_005256848.4:c.634G>A	XP_005256905.1:p.Ala212Thr
XM_011524065.2:c.634G>A	XP_011522367.1:p.Ala212Thr
XM_017025302.1:c.334G>A	XP_016880791.1:p.Ala112Thr
XM_017025303.1:c.334G>A	XP_016880792.1:p.Ala112Thr
XR_001752677.2:n.1031G>A
NM_145691.4:c.634G>A MANE Select	NP_663729.1:p.Ala212Thr