Canonical Allele Identifier: CA365746088

Gene: MTFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136233488C>A , CM000668.2:g.136233488C>A	GRCh38
NC_000006.11:g.136554626C>A , CM000668.1:g.136554626C>A	GRCh37
NC_000006.10:g.136596319C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001099286.3:c.881G>T MANE Select	NP_001092756.1:p.Gly294Val
ENST00000420702.6:c.881G>T MANE Select	ENSP00000395232.1:p.Gly294Val
NM_001099286.1:c.881G>T	NP_001092756.1:p.Gly294Val
NM_001099286.2:c.881G>T	NP_001092756.1:p.Gly294Val
NM_001318738.1:c.752G>T	NP_001305667.1:p.Gly251Val
NM_001318738.2:c.752G>T	NP_001305667.1:p.Gly251Val
NM_138419.3:c.881G>T	NP_612428.2:p.Gly294Val
NM_138419.4:c.881G>T	NP_612428.2:p.Gly294Val
NM_138419.5:c.881G>T	NP_612428.2:p.Gly294Val
ENST00000367784.6:c.*846G>T	ENSP00000356758.2:n.*846G>T
ENST00000420702.5:c.881G>T	ENSP00000395232.1:p.Gly294Val
ENST00000451457.6:c.881G>T	ENSP00000407010.2:p.Gly294Val
ENST00000532958.1:c.93G>T
XM_011535410.1:c.752G>T	XP_011533712.1:p.Gly251Val
XM_011535410.2:c.752G>T	XP_011533712.1:p.Gly251Val
XM_011535411.1:c.752G>T	XP_011533713.1:p.Gly251Val
XM_011535412.1:c.752G>T	XP_011533714.1:p.Gly251Val
XM_011535412.2:c.752G>T	XP_011533714.1:p.Gly251Val
XM_011535413.1:c.752G>T	XP_011533715.1:p.Gly251Val
XM_011535413.2:c.752G>T	XP_011533715.1:p.Gly251Val