Canonical Allele Identifier: CA2636413307

Gene: ATPAF2

Linked Data

• gnomAD v4: 17-18021052-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18021052G>A , CM000679.2:g.18021052G>A	GRCh38
NC_000017.10:g.17924366G>A , CM000679.1:g.17924366G>A	GRCh37
NC_000017.9:g.17865091G>A	NCBI36
NG_012824.1:g.23115C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000474627.8:c.732+71C>T MANE Select	ENSP00000417190.2:n.732+71C>T
ENST00000462733.5:c.*149+71C>T	ENSP00000463920.1:n.*149+71C>T
ENST00000465337.2:n.592-54C>T
ENST00000467560.5:n.142+71C>T
ENST00000469327.5:n.642+71C>T
ENST00000474627.7:c.732+71C>T	ENSP00000417190.2:n.732+71C>T
ENST00000488753.1:n.528-54C>T
ENST00000496852.5:n.1237+71C>T
ENST00000581698.1:c.49-2366C>T
ENST00000584205.5:c.*33+3572C>T	ENSP00000462899.1:n.*33+3572C>T
ENST00000585101.5:c.*33+3572C>T	ENSP00000463861.1:n.*33+3572C>T
NM_145691.3:c.732+71C>T	NP_663729.1:n.732+71C>T
XM_005256848.2:c.733-54C>T	XP_005256905.1:n.733-54C>T
XM_011524062.1:c.732+71C>T	XP_011522364.1:n.732+71C>T
XM_011524063.1:c.732+71C>T	XP_011522365.1:n.732+71C>T
XM_011524064.1:c.432+71C>T	XP_011522366.1:n.432+71C>T
XM_011524065.1:c.732+71C>T	XP_011522367.1:n.732+71C>T
XM_011524066.1:c.195+71C>T	XP_011522368.1:n.195+71C>T
XM_005256848.4:c.733-54C>T	XP_005256905.1:n.733-54C>T
XM_011524065.2:c.732+71C>T	XP_011522367.1:n.732+71C>T
XM_017025302.1:c.432+71C>T	XP_016880791.1:n.432+71C>T
XM_017025303.1:c.432+71C>T	XP_016880792.1:n.432+71C>T
XR_001752677.2:n.1129+71C>T
NM_145691.4:c.732+71C>T MANE Select	NP_663729.1:n.732+71C>T