Canonical Allele Identifier: CA2643323105

Gene: MFN2

Linked Data

• gnomAD v4: 1-12009703-T-TCAGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12009706_12009710dup , CM000663.2:g.12009706_12009710dup	GRCh38
NC_000001.10:g.12069763_12069767dup , CM000663.1:g.12069763_12069767dup	GRCh37
NC_000001.9:g.11992350_11992354dup	NCBI36
NG_007945.1:g.34526_34530dup , LRG_255:g.34526_34530dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.2184_2188dup MANE Select	ENSP00000235329.5:p.Lys730ArgfsTer?
ENST00000674548.1:c.2184_2188dup	ENSP00000502185.1:p.Lys730ArgfsTer?
ENST00000674658.1:c.1839_1843dup	ENSP00000502334.1:p.Lys615ArgfsTer?
ENST00000674817.1:c.2184_2188dup	ENSP00000502151.1:p.Lys730ArgfsTer?
ENST00000674910.1:c.2184_2188dup	ENSP00000501716.1:p.Lys730ArgfsTer?
ENST00000675043.1:n.152_156dup
ENST00000675053.1:c.2184_2188dup	ENSP00000501646.1:p.Lys730ArgfsTer?
ENST00000675113.1:c.2184_2188dup	ENSP00000502623.1:p.Lys730ArgfsTer?
ENST00000675231.1:c.2184_2188dup	ENSP00000502404.1:p.Lys730ArgfsTer?
ENST00000675298.1:c.2184_2188dup	ENSP00000501839.1:p.Lys730ArgfsTer?
ENST00000675404.1:n.2419_2423dup
ENST00000675483.1:n.2312_2316dup
ENST00000675512.1:c.*2186_*2190dup	ENSP00000502630.1:n.*2186_*2190dup
ENST00000675528.1:n.1675_1679dup
ENST00000675817.1:c.2316_2320dup	ENSP00000502422.1:p.Lys774ArgfsTer?
ENST00000675872.1:n.2544_2548dup
ENST00000675919.1:c.2184_2188dup	ENSP00000501776.1:p.Lys730ArgfsTer?
ENST00000675959.1:n.2690_2694dup
ENST00000675987.1:c.*157_*161dup	ENSP00000502145.1:n.*157_*161dup
ENST00000676293.1:c.2184_2188dup	ENSP00000502362.1:p.Lys730ArgfsTer?
ENST00000676295.1:n.597_601dup
ENST00000676426.1:c.*1184_*1188dup	ENSP00000502359.1:n.*1184_*1188dup
ENST00000235329.9:c.2184_2188dup	ENSP00000235329.5:p.Lys730ArgfsTer?
ENST00000444836.5:c.2184_2188dup	ENSP00000416338.1:p.Lys730ArgfsTer?
NM_001127660.1:c.2184_2188dup	NP_001121132.1:p.Lys730ArgfsTer?
NM_014874.3:c.2184_2188dup , LRG_255t1:c.2184_2188dup	NP_055689.1:p.Lys730ArgfsTer?
XM_005263543.2:c.2184_2188dup	XP_005263600.1:p.Lys730ArgfsTer?
XM_005263545.2:c.2184_2188dup	XP_005263602.1:p.Lys730ArgfsTer?
XM_005263547.2:c.2184_2188dup	XP_005263604.1:p.Lys730ArgfsTer?
XM_005263548.2:c.2184_2188dup	XP_005263605.1:p.Lys730ArgfsTer?
XM_005263543.3:c.2184_2188dup	XP_005263600.1:p.Lys730ArgfsTer?
XM_005263545.3:c.2184_2188dup	XP_005263602.1:p.Lys730ArgfsTer?
XM_005263547.3:c.2184_2188dup	XP_005263604.1:p.Lys730ArgfsTer?
XM_005263548.3:c.2184_2188dup	XP_005263605.1:p.Lys730ArgfsTer?
XM_024451299.1:c.2184_2188dup	XP_024307067.1:p.Lys730ArgfsTer?
NM_014874.4:c.2184_2188dup MANE Select	NP_055689.1:p.Lys730ArgfsTer?
NM_001127660.2:c.2184_2188dup	NP_001121132.1:p.Lys730ArgfsTer?