Canonical Allele Identifier: CA2586966249

Gene: MFN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11998783_11998792del , CM000663.2:g.11998783_11998792del	GRCh38
NC_000001.10:g.12058840_12058849del , CM000663.1:g.12058840_12058849del	GRCh37
NC_000001.9:g.11981427_11981436del	NCBI36
NG_007945.1:g.23603_23612del , LRG_255:g.23603_23612del

Transcript Alleles

HGVS	Amino-acid change
ENST00000235329.10:c.613_622del MANE Select	ENSP00000235329.5:p.Val205SerfsTer26
ENST00000674548.1:c.613_622del	ENSP00000502185.1:p.Val205SerfsTer26
ENST00000674658.1:c.268_277del	ENSP00000502334.1:p.Val90SerfsTer26
ENST00000674706.1:n.1052_1061del
ENST00000674817.1:c.613_622del	ENSP00000502151.1:p.Val205SerfsTer26
ENST00000674910.1:c.613_622del	ENSP00000501716.1:p.Val205SerfsTer26
ENST00000675053.1:c.613_622del	ENSP00000501646.1:p.Val205SerfsTer26
ENST00000675113.1:c.613_622del	ENSP00000502623.1:p.Val205SerfsTer26
ENST00000675194.1:n.1038_1047del
ENST00000675231.1:c.613_622del	ENSP00000502404.1:p.Val205SerfsTer26
ENST00000675298.1:c.613_622del	ENSP00000501839.1:p.Val205SerfsTer26
ENST00000675374.1:n.303_312del
ENST00000675483.1:n.741_750del
ENST00000675512.1:c.*615_*624del	ENSP00000502630.1:n.*615_*624del
ENST00000675528.1:n.104_113del
ENST00000675817.1:c.613_622del	ENSP00000502422.1:p.Val205SerfsTer26
ENST00000675872.1:n.864_873del
ENST00000675919.1:c.613_622del	ENSP00000501776.1:p.Val205SerfsTer26
ENST00000675959.1:n.1010_1019del
ENST00000675987.1:c.613_622del	ENSP00000502145.1:p.Val205SerfsTer26
ENST00000676293.1:c.613_622del	ENSP00000502362.1:p.Val205SerfsTer26
ENST00000676426.1:c.599+1362_599+1371del	ENSP00000502359.1:n.599+1362_599+1371del
ENST00000235329.9:c.613_622del	ENSP00000235329.5:p.Val205SerfsTer26
ENST00000444836.5:c.613_622del	ENSP00000416338.1:p.Val205SerfsTer26
NM_001127660.1:c.613_622del	NP_001121132.1:p.Val205SerfsTer26
NM_014874.3:c.613_622del , LRG_255t1:c.613_622del	NP_055689.1:p.Val205SerfsTer26
XM_005263543.2:c.613_622del	XP_005263600.1:p.Val205SerfsTer26
XM_005263545.2:c.613_622del	XP_005263602.1:p.Val205SerfsTer26
XM_005263547.2:c.613_622del	XP_005263604.1:p.Val205SerfsTer26
XM_005263548.2:c.613_622del	XP_005263605.1:p.Val205SerfsTer26
XM_005263543.3:c.613_622del	XP_005263600.1:p.Val205SerfsTer26
XM_005263545.3:c.613_622del	XP_005263602.1:p.Val205SerfsTer26
XM_005263547.3:c.613_622del	XP_005263604.1:p.Val205SerfsTer26
XM_005263548.3:c.613_622del	XP_005263605.1:p.Val205SerfsTer26
XM_024451299.1:c.613_622del	XP_024307067.1:p.Val205SerfsTer26
NM_014874.4:c.613_622del MANE Select	NP_055689.1:p.Val205SerfsTer26
NM_001127660.2:c.613_622del	NP_001121132.1:p.Val205SerfsTer26