Canonical Allele Identifier: CA8421775

Gene: ATPAF2

Linked Data

• dbSNP Id: rs770805213
• ExAC: 17:17924458 T / C
• gnomAD v2: 17-17924458-T-C
• gnomAD v4: 17-18021144-T-C
• MyVariant Identifiers: chr17:g.17924458T>C (hg19) ; chr17:g.18021144T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18021144T>C , CM000679.2:g.18021144T>C	GRCh38
NC_000017.10:g.17924458T>C , CM000679.1:g.17924458T>C	GRCh37
NC_000017.9:g.17865183T>C	NCBI36
NG_012824.1:g.23023A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000474627.8:c.711A>G MANE Select	ENSP00000417190.2:p.Ser237=
ENST00000462733.5:c.*128A>G	ENSP00000463920.1:n.*128A>G
ENST00000465337.2:n.570A>G
ENST00000467560.5:n.121A>G
ENST00000469327.5:n.621A>G
ENST00000474627.7:c.711A>G	ENSP00000417190.2:p.Ser237=
ENST00000488753.1:n.506A>G
ENST00000496852.5:n.1216A>G
ENST00000581698.1:c.49-2458A>G
ENST00000584205.5:c.*33+3480A>G	ENSP00000462899.1:n.*33+3480A>G
ENST00000585101.5:c.*33+3480A>G	ENSP00000463861.1:n.*33+3480A>G
NM_145691.3:c.711A>G	NP_663729.1:p.Ser237=
XM_005256848.2:c.711A>G	XP_005256905.1:p.Ser237=
XM_011524062.1:c.711A>G	XP_011522364.1:p.Ser237=
XM_011524063.1:c.711A>G	XP_011522365.1:p.Ser237=
XM_011524064.1:c.411A>G	XP_011522366.1:p.Ser137=
XM_011524065.1:c.711A>G	XP_011522367.1:p.Ser237=
XM_011524066.1:c.174A>G	XP_011522368.1:p.Ser58=
XM_005256848.4:c.711A>G	XP_005256905.1:p.Ser237=
XM_011524065.2:c.711A>G	XP_011522367.1:p.Ser237=
XM_017025302.1:c.411A>G	XP_016880791.1:p.Ser137=
XM_017025303.1:c.411A>G	XP_016880792.1:p.Ser137=
XR_001752677.2:n.1108A>G
NM_145691.4:c.711A>G MANE Select	NP_663729.1:p.Ser237=