Canonical Allele Identifier: CA2636423982

Gene: ATPAF2

Linked Data

• gnomAD v4: 17-18018222-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18018222G>A , CM000679.2:g.18018222G>A	GRCh38
NC_000017.10:g.17921536G>A , CM000679.1:g.17921536G>A	GRCh37
NC_000017.9:g.17862261G>A	NCBI36
NG_012824.1:g.25945C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000474627.8:c.*327C>T MANE Select	ENSP00000417190.2:n.*327C>T
ENST00000462733.5:c.*150-1962C>T	ENSP00000463920.1:n.*150-1962C>T
ENST00000474627.7:c.*327C>T	ENSP00000417190.2:n.*327C>T
ENST00000584205.5:c.*33+6402C>T	ENSP00000462899.1:n.*33+6402C>T
ENST00000585101.5:c.*34-1962C>T	ENSP00000463861.1:n.*34-1962C>T
NM_145691.3:c.*327C>T	NP_663729.1:n.*327C>T
XM_011524062.1:c.732+2901C>T	XP_011522364.1:n.732+2901C>T
XM_011524063.1:c.732+2901C>T	XP_011522365.1:n.732+2901C>T
XM_011524064.1:c.432+2901C>T	XP_011522366.1:n.432+2901C>T
XM_011524065.1:c.733-1962C>T	XP_011522367.1:n.733-1962C>T
XM_011524066.1:c.195+2901C>T	XP_011522368.1:n.195+2901C>T
XM_011524065.2:c.733-1962C>T	XP_011522367.1:n.733-1962C>T
XM_017025303.1:c.433-1962C>T	XP_016880792.1:n.433-1962C>T
XR_001752677.2:n.1594C>T
NM_145691.4:c.*327C>T MANE Select	NP_663729.1:n.*327C>T