Canonical Allele Identifier: CA398574493

Gene: ATPAF2

Linked Data

• gnomAD v4: 17-18021234-A-C
• MyVariant Identifiers: chr17:g.17924548A>C (hg19) ; chr17:g.18021234A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18021234A>C , CM000679.2:g.18021234A>C	GRCh38
NC_000017.10:g.17924548A>C , CM000679.1:g.17924548A>C	GRCh37
NC_000017.9:g.17865273A>C	NCBI36
NG_012824.1:g.22933T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.621T>G MANE Select	ENSP00000417190.2:p.Ile207Met
ENST00000462733.5:c.*38T>G	ENSP00000463920.1:n.*38T>G
ENST00000465337.2:n.480T>G
ENST00000467560.5:n.31T>G
ENST00000469327.5:n.531T>G
ENST00000474627.7:c.621T>G	ENSP00000417190.2:p.Ile207Met
ENST00000488753.1:n.416T>G
ENST00000496852.5:n.1126T>G
ENST00000581698.1:c.49-2548T>G
ENST00000584205.5:c.*33+3390T>G	ENSP00000462899.1:n.*33+3390T>G
ENST00000585101.5:c.*33+3390T>G	ENSP00000463861.1:n.*33+3390T>G
NM_145691.3:c.621T>G	NP_663729.1:p.Ile207Met
XM_005256848.2:c.621T>G	XP_005256905.1:p.Ile207Met
XM_011524062.1:c.621T>G	XP_011522364.1:p.Ile207Met
XM_011524063.1:c.621T>G	XP_011522365.1:p.Ile207Met
XM_011524064.1:c.321T>G	XP_011522366.1:p.Ile107Met
XM_011524065.1:c.621T>G	XP_011522367.1:p.Ile207Met
XM_011524066.1:c.84T>G	XP_011522368.1:p.Ile28Met
XR_934116.1:n.1019T>G
XM_005256848.4:c.621T>G	XP_005256905.1:p.Ile207Met
XM_011524065.2:c.621T>G	XP_011522367.1:p.Ile207Met
XM_017025302.1:c.321T>G	XP_016880791.1:p.Ile107Met
XM_017025303.1:c.321T>G	XP_016880792.1:p.Ile107Met
XR_001752677.2:n.1018T>G
NM_145691.4:c.621T>G MANE Select	NP_663729.1:p.Ile207Met