Canonical Allele Identifier: CA2839707551

Gene: MFN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12009723_12009724del , CM000663.2:g.12009723_12009724del	GRCh38
NC_000001.10:g.12069780_12069781del , CM000663.1:g.12069780_12069781del	GRCh37
NC_000001.9:g.11992367_11992368del	NCBI36
NG_007945.1:g.34543_34544del , LRG_255:g.34543_34544del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.2201_2202del MANE Select	ENSP00000235329.5:p.Leu734GlnfsTer3
ENST00000674548.1:c.2201_2202del	ENSP00000502185.1:p.Leu734GlnfsTer3
ENST00000674658.1:c.1856_1857del	ENSP00000502334.1:p.Leu619GlnfsTer3
ENST00000674817.1:c.2201_2202del	ENSP00000502151.1:p.Leu734GlnfsTer3
ENST00000674910.1:c.2201_2202del	ENSP00000501716.1:p.Leu734GlnfsTer3
ENST00000675043.1:n.169_170del
ENST00000675053.1:c.2201_2202del	ENSP00000501646.1:p.Leu734GlnfsTer3
ENST00000675113.1:c.2201_2202del	ENSP00000502623.1:p.Leu734GlnfsTer3
ENST00000675231.1:c.2201_2202del	ENSP00000502404.1:p.Leu734GlnfsTer3
ENST00000675298.1:c.2201_2202del	ENSP00000501839.1:p.Leu734GlnfsTer?
ENST00000675404.1:n.2436_2437del
ENST00000675483.1:n.2329_2330del
ENST00000675512.1:c.*2203_*2204del	ENSP00000502630.1:n.*2203_*2204del
ENST00000675528.1:n.1692_1693del
ENST00000675817.1:c.2333_2334del	ENSP00000502422.1:p.Leu778GlnfsTer3
ENST00000675872.1:n.2561_2562del
ENST00000675919.1:c.2201_2202del	ENSP00000501776.1:p.Leu734GlnfsTer3
ENST00000675959.1:n.2707_2708del
ENST00000675987.1:c.*174_*175del	ENSP00000502145.1:n.*174_*175del
ENST00000676293.1:c.2201_2202del	ENSP00000502362.1:p.Leu734GlnfsTer3
ENST00000676295.1:n.614_615del
ENST00000676426.1:c.*1201_*1202del	ENSP00000502359.1:n.*1201_*1202del
ENST00000235329.9:c.2201_2202del	ENSP00000235329.5:p.Leu734GlnfsTer3
ENST00000444836.5:c.2201_2202del	ENSP00000416338.1:p.Leu734GlnfsTer3
NM_001127660.1:c.2201_2202del	NP_001121132.1:p.Leu734GlnfsTer3
NM_014874.3:c.2201_2202del , LRG_255t1:c.2201_2202del	NP_055689.1:p.Leu734GlnfsTer3
XM_005263543.2:c.2201_2202del	XP_005263600.1:p.Leu734GlnfsTer3
XM_005263545.2:c.2201_2202del	XP_005263602.1:p.Leu734GlnfsTer3
XM_005263547.2:c.2201_2202del	XP_005263604.1:p.Leu734GlnfsTer3
XM_005263548.2:c.2201_2202del	XP_005263605.1:p.Leu734GlnfsTer3
XM_005263543.3:c.2201_2202del	XP_005263600.1:p.Leu734GlnfsTer3
XM_005263545.3:c.2201_2202del	XP_005263602.1:p.Leu734GlnfsTer3
XM_005263547.3:c.2201_2202del	XP_005263604.1:p.Leu734GlnfsTer3
XM_005263548.3:c.2201_2202del	XP_005263605.1:p.Leu734GlnfsTer3
XM_024451299.1:c.2201_2202del	XP_024307067.1:p.Leu734GlnfsTer3
NM_014874.4:c.2201_2202del MANE Select	NP_055689.1:p.Leu734GlnfsTer3
NM_001127660.2:c.2201_2202del	NP_001121132.1:p.Leu734GlnfsTer3