Canonical Allele Identifier: CA398577768
Community Standard Title: NM_145691.4(ATPAF2):c.412G>A (p.Asp138Asn)
Gene: ATPAF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18026329C>T , CM000679.2:g.18026329C>T GRCh38
NC_000017.10:g.17929643C>T , CM000679.1:g.17929643C>T GRCh37
NC_000017.9:g.17870368C>T NCBI36
NG_012824.1:g.17838G>A

Transcript Alleles

HGVS Amino-acid Change
NM_145691.4:c.412G>A MANE Select NP_663729.1:p.Asp138Asn
ENST00000474627.8:c.412G>A MANE Select ENSP00000417190.2:p.Asp138Asn
NM_145691.3:c.412G>A NP_663729.1:p.Asp138Asn
ENST00000444058.1:c.412G>A ENSP00000397198.1:p.Asp138Asn
ENST00000462733.5:c.266G>A ENSP00000463920.1:p.Arg89Gln
ENST00000474627.7:c.412G>A ENSP00000417190.2:p.Asp138Asn
ENST00000488753.1:n.207G>A
ENST00000584205.5:c.266G>A ENSP00000462899.1:p.Arg89Gln
ENST00000585101.5:c.266G>A ENSP00000463861.1:p.Arg89Gln
XM_005256848.2:c.412G>A XP_005256905.1:p.Asp138Asn
XM_005256848.4:c.412G>A XP_005256905.1:p.Asp138Asn
XM_011524062.1:c.412G>A XP_011522364.1:p.Asp138Asn
XM_011524063.1:c.412G>A XP_011522365.1:p.Asp138Asn
XM_011524064.1:c.112G>A XP_011522366.1:p.Asp38Asn
XM_011524065.1:c.412G>A XP_011522367.1:p.Asp138Asn
XM_011524065.2:c.412G>A XP_011522367.1:p.Asp138Asn
XM_011524066.1:c.-126G>A XP_011522368.1:n.-126G>A
XM_017025302.1:c.112G>A XP_016880791.1:p.Asp38Asn
XM_017025303.1:c.112G>A XP_016880792.1:p.Asp38Asn
XR_001752677.2:n.567G>A
XR_934116.1:n.568G>A