Canonical Allele Identifier: CA398574435

Gene: ATPAF2

Linked Data

• MyVariant Identifiers: chr17:g.17924541C>G (hg19) ; chr17:g.18021227C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18021227C>G , CM000679.2:g.18021227C>G	GRCh38
NC_000017.10:g.17924541C>G , CM000679.1:g.17924541C>G	GRCh37
NC_000017.9:g.17865266C>G	NCBI36
NG_012824.1:g.22940G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.628G>C MANE Select	ENSP00000417190.2:p.Val210Leu
ENST00000462733.5:c.*45G>C	ENSP00000463920.1:n.*45G>C
ENST00000465337.2:n.487G>C
ENST00000467560.5:n.38G>C
ENST00000469327.5:n.538G>C
ENST00000474627.7:c.628G>C	ENSP00000417190.2:p.Val210Leu
ENST00000488753.1:n.423G>C
ENST00000496852.5:n.1133G>C
ENST00000581698.1:c.49-2541G>C
ENST00000584205.5:c.*33+3397G>C	ENSP00000462899.1:n.*33+3397G>C
ENST00000585101.5:c.*33+3397G>C	ENSP00000463861.1:n.*33+3397G>C
NM_145691.3:c.628G>C	NP_663729.1:p.Val210Leu
XM_005256848.2:c.628G>C	XP_005256905.1:p.Val210Leu
XM_011524062.1:c.628G>C	XP_011522364.1:p.Val210Leu
XM_011524063.1:c.628G>C	XP_011522365.1:p.Val210Leu
XM_011524064.1:c.328G>C	XP_011522366.1:p.Val110Leu
XM_011524065.1:c.628G>C	XP_011522367.1:p.Val210Leu
XM_011524066.1:c.91G>C	XP_011522368.1:p.Val31Leu
XR_934116.1:n.1026G>C
XM_005256848.4:c.628G>C	XP_005256905.1:p.Val210Leu
XM_011524065.2:c.628G>C	XP_011522367.1:p.Val210Leu
XM_017025302.1:c.328G>C	XP_016880791.1:p.Val110Leu
XM_017025303.1:c.328G>C	XP_016880792.1:p.Val110Leu
XR_001752677.2:n.1025G>C
NM_145691.4:c.628G>C MANE Select	NP_663729.1:p.Val210Leu