Canonical Allele Identifier: CA398574515

Gene: ATPAF2

Linked Data

• gnomAD v4: 17-18021236-T-C
• MyVariant Identifiers: chr17:g.17924550T>C (hg19) ; chr17:g.18021236T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18021236T>C , CM000679.2:g.18021236T>C	GRCh38
NC_000017.10:g.17924550T>C , CM000679.1:g.17924550T>C	GRCh37
NC_000017.9:g.17865275T>C	NCBI36
NG_012824.1:g.22931A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.619A>G MANE Select	ENSP00000417190.2:p.Ile207Val
ENST00000462733.5:c.*36A>G	ENSP00000463920.1:n.*36A>G
ENST00000465337.2:n.478A>G
ENST00000467560.5:n.29A>G
ENST00000469327.5:n.529A>G
ENST00000474627.7:c.619A>G	ENSP00000417190.2:p.Ile207Val
ENST00000488753.1:n.414A>G
ENST00000496852.5:n.1124A>G
ENST00000581698.1:c.49-2550A>G
ENST00000584205.5:c.*33+3388A>G	ENSP00000462899.1:n.*33+3388A>G
ENST00000585101.5:c.*33+3388A>G	ENSP00000463861.1:n.*33+3388A>G
NM_145691.3:c.619A>G	NP_663729.1:p.Ile207Val
XM_005256848.2:c.619A>G	XP_005256905.1:p.Ile207Val
XM_011524062.1:c.619A>G	XP_011522364.1:p.Ile207Val
XM_011524063.1:c.619A>G	XP_011522365.1:p.Ile207Val
XM_011524064.1:c.319A>G	XP_011522366.1:p.Ile107Val
XM_011524065.1:c.619A>G	XP_011522367.1:p.Ile207Val
XM_011524066.1:c.82A>G	XP_011522368.1:p.Ile28Val
XR_934116.1:n.1017A>G
XM_005256848.4:c.619A>G	XP_005256905.1:p.Ile207Val
XM_011524065.2:c.619A>G	XP_011522367.1:p.Ile207Val
XM_017025302.1:c.319A>G	XP_016880791.1:p.Ile107Val
XM_017025303.1:c.319A>G	XP_016880792.1:p.Ile107Val
XR_001752677.2:n.1016A>G
NM_145691.4:c.619A>G MANE Select	NP_663729.1:p.Ile207Val