Canonical Allele Identifier: CA2636413308

Gene: ATPAF2

Linked Data

• gnomAD v4: 17-18021055-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18021055T>C , CM000679.2:g.18021055T>C	GRCh38
NC_000017.10:g.17924369T>C , CM000679.1:g.17924369T>C	GRCh37
NC_000017.9:g.17865094T>C	NCBI36
NG_012824.1:g.23112A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000474627.8:c.732+68A>G MANE Select	ENSP00000417190.2:n.732+68A>G
ENST00000462733.5:c.*149+68A>G	ENSP00000463920.1:n.*149+68A>G
ENST00000465337.2:n.592-57A>G
ENST00000467560.5:n.142+68A>G
ENST00000469327.5:n.642+68A>G
ENST00000474627.7:c.732+68A>G	ENSP00000417190.2:n.732+68A>G
ENST00000488753.1:n.528-57A>G
ENST00000496852.5:n.1237+68A>G
ENST00000581698.1:c.49-2369A>G
ENST00000584205.5:c.*33+3569A>G	ENSP00000462899.1:n.*33+3569A>G
ENST00000585101.5:c.*33+3569A>G	ENSP00000463861.1:n.*33+3569A>G
NM_145691.3:c.732+68A>G	NP_663729.1:n.732+68A>G
XM_005256848.2:c.733-57A>G	XP_005256905.1:n.733-57A>G
XM_011524062.1:c.732+68A>G	XP_011522364.1:n.732+68A>G
XM_011524063.1:c.732+68A>G	XP_011522365.1:n.732+68A>G
XM_011524064.1:c.432+68A>G	XP_011522366.1:n.432+68A>G
XM_011524065.1:c.732+68A>G	XP_011522367.1:n.732+68A>G
XM_011524066.1:c.195+68A>G	XP_011522368.1:n.195+68A>G
XM_005256848.4:c.733-57A>G	XP_005256905.1:n.733-57A>G
XM_011524065.2:c.732+68A>G	XP_011522367.1:n.732+68A>G
XM_017025302.1:c.432+68A>G	XP_016880791.1:n.432+68A>G
XM_017025303.1:c.432+68A>G	XP_016880792.1:n.432+68A>G
XR_001752677.2:n.1129+68A>G
NM_145691.4:c.732+68A>G MANE Select	NP_663729.1:n.732+68A>G