Canonical Allele Identifier: CA2636423817

Gene: ATPAF2

Linked Data

• gnomAD v4: 17-18018037-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18018037T>G , CM000679.2:g.18018037T>G	GRCh38
NC_000017.10:g.17921351T>G , CM000679.1:g.17921351T>G	GRCh37
NC_000017.9:g.17862076T>G	NCBI36
NG_012824.1:g.26130A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474627.8:c.*512A>C MANE Select	ENSP00000417190.2:n.*512A>C
ENST00000462733.5:c.*150-1777A>C	ENSP00000463920.1:n.*150-1777A>C
ENST00000474627.7:c.*512A>C	ENSP00000417190.2:n.*512A>C
ENST00000584205.5:c.*33+6587A>C	ENSP00000462899.1:n.*33+6587A>C
ENST00000585101.5:c.*34-1777A>C	ENSP00000463861.1:n.*34-1777A>C
NM_145691.3:c.*512A>C	NP_663729.1:n.*512A>C
XM_011524062.1:c.732+3086A>C	XP_011522364.1:n.732+3086A>C
XM_011524063.1:c.732+3086A>C	XP_011522365.1:n.732+3086A>C
XM_011524064.1:c.432+3086A>C	XP_011522366.1:n.432+3086A>C
XM_011524065.1:c.733-1777A>C	XP_011522367.1:n.733-1777A>C
XM_011524066.1:c.195+3086A>C	XP_011522368.1:n.195+3086A>C
XM_011524065.2:c.733-1777A>C	XP_011522367.1:n.733-1777A>C
XM_017025303.1:c.433-1777A>C	XP_016880792.1:n.433-1777A>C
XR_001752677.2:n.1779A>C
NM_145691.4:c.*512A>C MANE Select	NP_663729.1:n.*512A>C