Canonical Allele Identifier: CA2573130672

Gene: MFN2

Linked Data

• ClinVar Variation Id: 1649173
• ClinVar RCV Id: RCV002146254
• dbSNP Id: rs2100813069

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11992704_11992705delinsTT , CM000663.2:g.11992704_11992705delinsTT	GRCh38
NC_000001.10:g.12052761_12052762delinsTT , CM000663.1:g.12052761_12052762delinsTT	GRCh37
NC_000001.9:g.11975348_11975349delinsTT	NCBI36
NG_007945.1:g.17524_17525delinsTT , LRG_255:g.17524_17525delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000235329.10:c.311+14_311+15delinsTT MANE Select	ENSP00000235329.5:n.311+14_311+15delinsTT...
ENST00000674548.1:c.311+14_311+15delinsTT	ENSP00000502185.1:n.311+14_311+15delinsTT...
ENST00000674658.1:c.-34-3452_-34-3451delinsTT	ENSP00000502334.1:n.-34-3452_-34-3451deli...
ENST00000674706.1:n.750+14_750+15delinsTT
ENST00000674817.1:c.311+14_311+15delinsTT	ENSP00000502151.1:n.311+14_311+15delinsTT...
ENST00000674910.1:c.311+14_311+15delinsTT	ENSP00000501716.1:n.311+14_311+15delinsTT...
ENST00000675053.1:c.311+14_311+15delinsTT	ENSP00000501646.1:n.311+14_311+15delinsTT...
ENST00000675113.1:c.311+14_311+15delinsTT	ENSP00000502623.1:n.311+14_311+15delinsTT...
ENST00000675194.1:n.736+14_736+15delinsTT
ENST00000675231.1:c.311+14_311+15delinsTT	ENSP00000502404.1:n.311+14_311+15delinsTT...
ENST00000675298.1:c.311+14_311+15delinsTT	ENSP00000501839.1:n.311+14_311+15delinsTT...
ENST00000675483.1:n.439+14_439+15delinsTT
ENST00000675512.1:c.*313+14_*313+15delinsTT	ENSP00000502630.1:n.*313+14_*313+15delins...
ENST00000675817.1:c.311+14_311+15delinsTT	ENSP00000502422.1:n.311+14_311+15delinsTT...
ENST00000675872.1:n.562+14_562+15delinsTT
ENST00000675919.1:c.311+14_311+15delinsTT	ENSP00000501776.1:n.311+14_311+15delinsTT...
ENST00000675959.1:n.708+14_708+15delinsTT
ENST00000675987.1:c.311+14_311+15delinsTT	ENSP00000502145.1:n.311+14_311+15delinsTT...
ENST00000676293.1:c.311+14_311+15delinsTT	ENSP00000502362.1:n.311+14_311+15delinsTT...
ENST00000676426.1:c.311+14_311+15delinsTT	ENSP00000502359.1:n.311+14_311+15delinsTT...
ENST00000235329.9:c.311+14_311+15delinsTT	ENSP00000235329.5:n.311+14_311+15delinsTT...
ENST00000444836.5:c.311+14_311+15delinsTT	ENSP00000416338.1:n.311+14_311+15delinsTT...
NM_001127660.1:c.311+14_311+15delinsTT	NP_001121132.1:n.311+14_311+15delinsTT
NM_014874.3:c.311+14_311+15delinsTT , LRG_255t1:c.311+14_311+15delinsTT	NP_055689.1:n.311+14_311+15delinsTT
XM_005263543.2:c.311+14_311+15delinsTT	XP_005263600.1:n.311+14_311+15delinsTT
XM_005263545.2:c.311+14_311+15delinsTT	XP_005263602.1:n.311+14_311+15delinsTT
XM_005263547.2:c.311+14_311+15delinsTT	XP_005263604.1:n.311+14_311+15delinsTT
XM_005263548.2:c.311+14_311+15delinsTT	XP_005263605.1:n.311+14_311+15delinsTT
XM_005263543.3:c.311+14_311+15delinsTT	XP_005263600.1:n.311+14_311+15delinsTT
XM_005263545.3:c.311+14_311+15delinsTT	XP_005263602.1:n.311+14_311+15delinsTT
XM_005263547.3:c.311+14_311+15delinsTT	XP_005263604.1:n.311+14_311+15delinsTT
XM_005263548.3:c.311+14_311+15delinsTT	XP_005263605.1:n.311+14_311+15delinsTT
XM_024451299.1:c.311+14_311+15delinsTT	XP_024307067.1:n.311+14_311+15delinsTT
NM_014874.4:c.311+14_311+15delinsTT MANE Select	NP_055689.1:n.311+14_311+15delinsTT
NM_001127660.2:c.311+14_311+15delinsTT	NP_001121132.1:n.311+14_311+15delinsTT