Canonical Allele Identifier: CA1153927479

Gene: MFN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12009595_12009599delinsACTGT , CM000663.2:g.12009595_12009599delinsACTGT	GRCh38
NC_000001.10:g.12069652_12069656delinsACTGT , CM000663.1:g.12069652_12069656delinsACTGT	GRCh37
NC_000001.9:g.11992239_11992243delinsACTGT	NCBI36
NG_007945.1:g.34415_34419delinsACTGT , LRG_255:g.34415_34419delinsACTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.2073_2077delinsACTGT MANE Select	ENSP00000235329.5:p.Glu691=
ENST00000674548.1:c.2073_2077delinsACTGT	ENSP00000502185.1:p.Glu691=
ENST00000674658.1:c.1728_1732delinsACTGT	ENSP00000502334.1:p.Glu576=
ENST00000674817.1:c.2073_2077delinsACTGT	ENSP00000502151.1:p.Glu691=
ENST00000674910.1:c.2073_2077delinsACTGT	ENSP00000501716.1:p.Glu691=
ENST00000675043.1:n.41_45delinsACTGT
ENST00000675053.1:c.2073_2077delinsACTGT	ENSP00000501646.1:p.Glu691=
ENST00000675113.1:c.2073_2077delinsACTGT	ENSP00000502623.1:p.Glu691=
ENST00000675231.1:c.2073_2077delinsACTGT	ENSP00000502404.1:p.Glu691=
ENST00000675298.1:c.2073_2077delinsACTGT	ENSP00000501839.1:p.Glu691=
ENST00000675404.1:n.2308_2312delinsACTGT
ENST00000675483.1:n.2201_2205delinsACTGT
ENST00000675512.1:c.*2075_*2079delinsACTGT	ENSP00000502630.1:n.*2075_*2079delinsACTGT
ENST00000675528.1:n.1564_1568delinsACTGT
ENST00000675817.1:c.2205_2209delinsACTGT	ENSP00000502422.1:p.Glu735=
ENST00000675872.1:n.2433_2437delinsACTGT
ENST00000675919.1:c.2073_2077delinsACTGT	ENSP00000501776.1:p.Glu691=
ENST00000675959.1:n.2579_2583delinsACTGT
ENST00000675987.1:c.*46_*50delinsACTGT	ENSP00000502145.1:n.*46_*50delinsACTGT
ENST00000676293.1:c.2073_2077delinsACTGT	ENSP00000502362.1:p.Glu691=
ENST00000676295.1:n.486_490delinsACTGT
ENST00000676426.1:c.*1073_*1077delinsACTGT	ENSP00000502359.1:n.*1073_*1077delinsACTGT
ENST00000235329.9:c.2073_2077delinsACTGT	ENSP00000235329.5:p.Glu691=
ENST00000444836.5:c.2073_2077delinsACTGT	ENSP00000416338.1:p.Glu691=
NM_001127660.1:c.2073_2077delinsACTGT	NP_001121132.1:p.Glu691=
NM_014874.3:c.2073_2077delinsACTGT , LRG_255t1:c.2073_2077delinsACTGT	NP_055689.1:p.Glu691=
XM_005263543.2:c.2073_2077delinsACTGT	XP_005263600.1:p.Glu691=
XM_005263545.2:c.2073_2077delinsACTGT	XP_005263602.1:p.Glu691=
XM_005263547.2:c.2073_2077delinsACTGT	XP_005263604.1:p.Glu691=
XM_005263548.2:c.2073_2077delinsACTGT	XP_005263605.1:p.Glu691=
XM_005263543.3:c.2073_2077delinsACTGT	XP_005263600.1:p.Glu691=
XM_005263545.3:c.2073_2077delinsACTGT	XP_005263602.1:p.Glu691=
XM_005263547.3:c.2073_2077delinsACTGT	XP_005263604.1:p.Glu691=
XM_005263548.3:c.2073_2077delinsACTGT	XP_005263605.1:p.Glu691=
XM_024451299.1:c.2073_2077delinsACTGT	XP_024307067.1:p.Glu691=
NM_014874.4:c.2073_2077delinsACTGT MANE Select	NP_055689.1:p.Glu691=
NM_001127660.2:c.2073_2077delinsACTGT	NP_001121132.1:p.Glu691=