Canonical Allele Identifier: CA3278195
Gene: NDUFAF2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.61152859T>A
GRCh37 chr5:g.60448686T>A
Revel Score:
ENST00000296597 (MANE Select) 0.280
gnomAD v2:
5:60448686 T / A
gnomAD v3:
5:61152859 T / A
gnomAD v4:
chr5-61152859-T-A
Joint Max Group AF 0.0000887 (EAS)
Exomes Max Group AF 0.0000824 (EAS)
ClinVar RCV:
RCV000302238
RCV000400065
ClinVar Variation:
354036
dbSNP:
770172045
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.61152859T>A , CM000667.2:g.61152859T>A GRCh38
NC_000005.9:g.60448686T>A , CM000667.1:g.60448686T>A GRCh37
NC_000005.8:g.60484443T>A NCBI36
NG_008978.1:g.212731T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296597.10:c.414T>A MANE Select ENSP00000296597.5:p.Phe138Leu
ENST00000677756.1:c.*430T>A ENSP00000503642.1:n.*430T>A
ENST00000678452.1:c.*244T>A ENSP00000504248.1:n.*244T>A
ENST00000296597.9:c.414T>A ENSP00000296597.5:p.Phe138Leu
ENST00000502658.1:c.294T>A
ENST00000511107.1:c.*187T>A ENSP00000423377.1:n.*187T>A
ENST00000512623.1:n.539T>A
NM_174889.4:c.414T>A NP_777549.1:p.Phe138Leu
NM_174889.5:c.414T>A MANE Select NP_777549.1:p.Phe138Leu
Search 100 bp 5'
Search 100 bp 3'