Canonical Allele Identifier: CA3278200
Community Standard Title: NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser)
Gene: NDUFAF2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.61152896G>A , CM000667.2:g.61152896G>A GRCh38
NC_000005.9:g.60448723G>A , CM000667.1:g.60448723G>A GRCh37
NC_000005.8:g.60484480G>A NCBI36
NG_008978.1:g.212768G>A

Transcript Alleles

HGVS Amino-acid Change
NM_174889.5:c.451G>A MANE Select NP_777549.1:p.Gly151Ser
ENST00000296597.10:c.451G>A MANE Select ENSP00000296597.5:p.Gly151Ser
NM_174889.4:c.451G>A NP_777549.1:p.Gly151Ser
ENST00000296597.9:c.451G>A ENSP00000296597.5:p.Gly151Ser
ENST00000502658.1:c.331G>A
ENST00000511107.1:c.*224G>A ENSP00000423377.1:n.*224G>A
ENST00000512623.1:n.576G>A
ENST00000677756.1:c.*467G>A ENSP00000503642.1:n.*467G>A
ENST00000678452.1:c.*281G>A ENSP00000504248.1:n.*281G>A
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