Canonical Allele Identifier: CA3278149
Gene: NDUFAF2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.61098995G>A
GRCh37 chr5:g.60394822G>A
gnomAD v2:
5:60394822 G / A
gnomAD v3:
5:61098995 G / A
gnomAD v4:
chr5-61098995-G-A
Joint Max Group AF 0.00001901 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001848 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.61098995G>A , CM000667.2:g.61098995G>A GRCh38
NC_000005.9:g.60394822G>A , CM000667.1:g.60394822G>A GRCh37
NC_000005.8:g.60430579G>A NCBI36
NG_008978.1:g.158867G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296597.10:c.221G>A MANE Select ENSP00000296597.5:p.Trp74Ter
ENST00000677756.1:c.*237G>A ENSP00000503642.1:n.*237G>A
ENST00000677932.1:c.221G>A ENSP00000504750.1:p.Trp74Ter
ENST00000678452.1:c.*51G>A ENSP00000504248.1:n.*51G>A
ENST00000296597.9:c.221G>A ENSP00000296597.5:p.Trp74Ter
ENST00000502658.1:c.138+25781G>A
ENST00000511107.1:c.177G>A ENSP00000423377.1:p.Leu59=
ENST00000512623.1:n.346G>A
NM_174889.4:c.221G>A NP_777549.1:p.Trp74Ter
NM_174889.5:c.221G>A MANE Select NP_777549.1:p.Trp74Ter
Search 100 bp 5'
Search 100 bp 3'