Canonical Allele Identifier: CA1139655976

Gene: MFN2

Linked Data

• ClinVar Variation Id: 917375
• ClinVar RCV Id: RCV001174315
• dbSNP Id: rs1639600409

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12009642_12009650del , CM000663.2:g.12009642_12009650del	GRCh38
NC_000001.10:g.12069699_12069707del , CM000663.1:g.12069699_12069707del	GRCh37
NC_000001.9:g.11992286_11992294del	NCBI36
NG_007945.1:g.34462_34470del , LRG_255:g.34462_34470del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.2120_2128del MANE Select	ENSP00000235329.5:p.Arg707_Asn709del
ENST00000674548.1:c.2120_2128del	ENSP00000502185.1:p.Arg707_Asn709del
ENST00000674658.1:c.1775_1783del	ENSP00000502334.1:p.Arg592_Asn594del
ENST00000674817.1:c.2120_2128del	ENSP00000502151.1:p.Arg707_Asn709del
ENST00000674910.1:c.2120_2128del	ENSP00000501716.1:p.Arg707_Asn709del
ENST00000675043.1:n.88_96del
ENST00000675053.1:c.2120_2128del	ENSP00000501646.1:p.Arg707_Asn709del
ENST00000675113.1:c.2120_2128del	ENSP00000502623.1:p.Arg707_Asn709del
ENST00000675231.1:c.2120_2128del	ENSP00000502404.1:p.Arg707_Asn709del
ENST00000675298.1:c.2120_2128del	ENSP00000501839.1:p.Arg707_Asn709del
ENST00000675404.1:n.2355_2363del
ENST00000675483.1:n.2248_2256del
ENST00000675512.1:c.*2122_*2130del	ENSP00000502630.1:n.*2122_*2130del
ENST00000675528.1:n.1611_1619del
ENST00000675817.1:c.2252_2260del	ENSP00000502422.1:p.Arg751_Asn753del
ENST00000675872.1:n.2480_2488del
ENST00000675919.1:c.2120_2128del	ENSP00000501776.1:p.Arg707_Asn709del
ENST00000675959.1:n.2626_2634del
ENST00000675987.1:c.*93_*101del	ENSP00000502145.1:n.*93_*101del
ENST00000676293.1:c.2120_2128del	ENSP00000502362.1:p.Arg707_Asn709del
ENST00000676295.1:n.533_541del
ENST00000676426.1:c.*1120_*1128del	ENSP00000502359.1:n.*1120_*1128del
ENST00000235329.9:c.2120_2128del	ENSP00000235329.5:p.Arg707_Asn709del
ENST00000444836.5:c.2120_2128del	ENSP00000416338.1:p.Arg707_Asn709del
NM_001127660.1:c.2120_2128del	NP_001121132.1:p.Arg707_Asn709del
NM_014874.3:c.2120_2128del , LRG_255t1:c.2120_2128del	NP_055689.1:p.Arg707_Asn709del
XM_005263543.2:c.2120_2128del	XP_005263600.1:p.Arg707_Asn709del
XM_005263545.2:c.2120_2128del	XP_005263602.1:p.Arg707_Asn709del
XM_005263547.2:c.2120_2128del	XP_005263604.1:p.Arg707_Asn709del
XM_005263548.2:c.2120_2128del	XP_005263605.1:p.Arg707_Asn709del
XM_005263543.3:c.2120_2128del	XP_005263600.1:p.Arg707_Asn709del
XM_005263545.3:c.2120_2128del	XP_005263602.1:p.Arg707_Asn709del
XM_005263547.3:c.2120_2128del	XP_005263604.1:p.Arg707_Asn709del
XM_005263548.3:c.2120_2128del	XP_005263605.1:p.Arg707_Asn709del
XM_024451299.1:c.2120_2128del	XP_024307067.1:p.Arg707_Asn709del
NM_014874.4:c.2120_2128del MANE Select	NP_055689.1:p.Arg707_Asn709del
NM_001127660.2:c.2120_2128del	NP_001121132.1:p.Arg707_Asn709del