Canonical Allele Identifier: CA398574462
Gene: ATPAF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18021230A>G , CM000679.2:g.18021230A>G GRCh38
NC_000017.10:g.17924544A>G , CM000679.1:g.17924544A>G GRCh37
NC_000017.9:g.17865269A>G NCBI36
NG_012824.1:g.22937T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000474627.8:c.625T>C MANE Select ENSP00000417190.2:p.Phe209Leu
ENST00000462733.5:c.*42T>C ENSP00000463920.1:n.*42T>C
ENST00000465337.2:n.484T>C
ENST00000467560.5:n.35T>C
ENST00000469327.5:n.535T>C
ENST00000474627.7:c.625T>C ENSP00000417190.2:p.Phe209Leu
ENST00000488753.1:n.420T>C
ENST00000496852.5:n.1130T>C
ENST00000581698.1:c.49-2544T>C
ENST00000584205.5:c.*33+3394T>C ENSP00000462899.1:n.*33+3394T>C
ENST00000585101.5:c.*33+3394T>C ENSP00000463861.1:n.*33+3394T>C
NM_145691.3:c.625T>C NP_663729.1:p.Phe209Leu
XM_005256848.2:c.625T>C XP_005256905.1:p.Phe209Leu
XM_011524062.1:c.625T>C XP_011522364.1:p.Phe209Leu
XM_011524063.1:c.625T>C XP_011522365.1:p.Phe209Leu
XM_011524064.1:c.325T>C XP_011522366.1:p.Phe109Leu
XM_011524065.1:c.625T>C XP_011522367.1:p.Phe209Leu
XM_011524066.1:c.88T>C XP_011522368.1:p.Phe30Leu
XR_934116.1:n.1023T>C
XM_005256848.4:c.625T>C XP_005256905.1:p.Phe209Leu
XM_011524065.2:c.625T>C XP_011522367.1:p.Phe209Leu
XM_017025302.1:c.325T>C XP_016880791.1:p.Phe109Leu
XM_017025303.1:c.325T>C XP_016880792.1:p.Phe109Leu
XR_001752677.2:n.1022T>C
NM_145691.4:c.625T>C MANE Select NP_663729.1:p.Phe209Leu