Canonical Allele Identifier: CA8421772

Gene: ATPAF2

Linked Data

• dbSNP Id: rs770015610
• ExAC: 17:17924456 C / A
• gnomAD v2: 17-17924456-C-A
• gnomAD v4: 17-18021142-C-A
• MyVariant Identifiers: chr17:g.17924456C>A (hg19) ; chr17:g.18021142C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18021142C>A , CM000679.2:g.18021142C>A	GRCh38
NC_000017.10:g.17924456C>A , CM000679.1:g.17924456C>A	GRCh37
NC_000017.9:g.17865181C>A	NCBI36
NG_012824.1:g.23025G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000474627.8:c.713G>T MANE Select	ENSP00000417190.2:p.Arg238Leu
ENST00000462733.5:c.*130G>T	ENSP00000463920.1:n.*130G>T
ENST00000465337.2:n.572G>T
ENST00000467560.5:n.123G>T
ENST00000469327.5:n.623G>T
ENST00000474627.7:c.713G>T	ENSP00000417190.2:p.Arg238Leu
ENST00000488753.1:n.508G>T
ENST00000496852.5:n.1218G>T
ENST00000581698.1:c.49-2456G>T
ENST00000584205.5:c.*33+3482G>T	ENSP00000462899.1:n.*33+3482G>T
ENST00000585101.5:c.*33+3482G>T	ENSP00000463861.1:n.*33+3482G>T
NM_145691.3:c.713G>T	NP_663729.1:p.Arg238Leu
XM_005256848.2:c.713G>T	XP_005256905.1:p.Arg238Leu
XM_011524062.1:c.713G>T	XP_011522364.1:p.Arg238Leu
XM_011524063.1:c.713G>T	XP_011522365.1:p.Arg238Leu
XM_011524064.1:c.413G>T	XP_011522366.1:p.Arg138Leu
XM_011524065.1:c.713G>T	XP_011522367.1:p.Arg238Leu
XM_011524066.1:c.176G>T	XP_011522368.1:p.Arg59Leu
XM_005256848.4:c.713G>T	XP_005256905.1:p.Arg238Leu
XM_011524065.2:c.713G>T	XP_011522367.1:p.Arg238Leu
XM_017025302.1:c.413G>T	XP_016880791.1:p.Arg138Leu
XM_017025303.1:c.413G>T	XP_016880792.1:p.Arg138Leu
XR_001752677.2:n.1110G>T
NM_145691.4:c.713G>T MANE Select	NP_663729.1:p.Arg238Leu