Canonical Allele Identifier: CA322323
Gene: NDUFAF2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.61073128A>C
GRCh37 chr5:g.60368955A>C
Revel Score:
ENST00000502658 0.195
ENST00000296597 (MANE Select) 0.173
gnomAD v2:
5:60368955 A / C
gnomAD v3:
5:61073128 A / C
gnomAD v4:
chr5-61073128-A-C
Joint Max Group AF 0.00016632 (AMR)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00018894 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.61073128A>C , CM000667.2:g.61073128A>C GRCh38
NC_000005.9:g.60368955A>C , CM000667.1:g.60368955A>C GRCh37
NC_000005.8:g.60404712A>C NCBI36
NG_008978.1:g.133000A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296597.10:c.131A>C MANE Select ENSP00000296597.5:p.Gln44Pro
ENST00000677756.1:c.*147A>C ENSP00000503642.1:n.*147A>C
ENST00000677932.1:c.131A>C ENSP00000504750.1:p.Gln44Pro
ENST00000678452.1:c.177A>C ENSP00000504248.1:p.Thr59=
ENST00000296597.9:c.131A>C ENSP00000296597.5:p.Gln44Pro
ENST00000502658.1:c.52A>C
ENST00000511107.1:c.174-25864A>C ENSP00000423377.1:n.174-25864A>C
ENST00000512623.1:n.169A>C
NM_174889.4:c.131A>C NP_777549.1:p.Gln44Pro
NM_174889.5:c.131A>C MANE Select NP_777549.1:p.Gln44Pro
Search 100 bp 5'
Search 100 bp 3'