Canonical Allele Identifier: CA2643322328

Gene: MFN2

Linked Data

• gnomAD v4: 1-11982670-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11982671del , CM000663.2:g.11982671del	GRCh38
NC_000001.10:g.12042728del , CM000663.1:g.12042728del	GRCh37
NC_000001.9:g.11965315del	NCBI36
NG_007945.1:g.7491del , LRG_255:g.7491del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.-5+557del MANE Select	ENSP00000235329.5:n.-5+557del
ENST00000412236.2:c.-5+81del	ENSP00000412023.1:n.-5+81del
ENST00000674548.1:c.-95+2187del	ENSP00000502185.1:n.-95+2187del
ENST00000674658.1:c.-35+81del	ENSP00000502334.1:n.-35+81del
ENST00000674706.1:n.435+81del
ENST00000674817.1:c.-5+2187del	ENSP00000502151.1:n.-5+2187del
ENST00000674910.1:c.-127+2187del	ENSP00000501716.1:n.-127+2187del
ENST00000675053.1:c.-5+557del	ENSP00000501646.1:n.-5+557del
ENST00000675113.1:c.-67+557del	ENSP00000502623.1:n.-67+557del
ENST00000675194.1:n.421+557del
ENST00000675231.1:c.-5+81del	ENSP00000502404.1:n.-5+81del
ENST00000675298.1:c.-5+557del	ENSP00000501839.1:n.-5+557del
ENST00000675512.1:c.-5+557del	ENSP00000502630.1:n.-5+557del
ENST00000675530.1:c.-5+557del	ENSP00000501972.1:n.-5+557del
ENST00000675781.1:c.-5+557del	ENSP00000501947.1:n.-5+557del
ENST00000675817.1:c.-5+557del	ENSP00000502422.1:n.-5+557del
ENST00000675872.1:n.247+2187del
ENST00000675919.1:c.-95+557del	ENSP00000501776.1:n.-95+557del
ENST00000675959.1:n.393+557del
ENST00000675987.1:c.-5+557del	ENSP00000502145.1:n.-5+557del
ENST00000676293.1:c.-127+557del	ENSP00000502362.1:n.-127+557del
ENST00000676369.1:c.-5+81del	ENSP00000502005.1:n.-5+81del
ENST00000676426.1:c.-5+557del	ENSP00000502359.1:n.-5+557del
ENST00000235329.9:c.-5+557del	ENSP00000235329.5:n.-5+557del
ENST00000412236.1:c.-5+81del	ENSP00000412023.1:n.-5+81del
ENST00000444836.5:c.-5+2187del	ENSP00000416338.1:n.-5+2187del
ENST00000484391.5:n.115+2187del
ENST00000490079.5:n.375+557del
ENST00000497302.1:n.195+557del
NM_001127660.1:c.-5+2187del	NP_001121132.1:n.-5+2187del
NM_014874.3:c.-5+557del , LRG_255t1:c.-5+557del	NP_055689.1:n.-5+557del
XM_005263543.2:c.-5+81del	XP_005263600.1:n.-5+81del
XM_005263545.2:c.-5+557del	XP_005263602.1:n.-5+557del
XM_005263547.2:c.-5+557del	XP_005263604.1:n.-5+557del
XM_005263548.2:c.-5+81del	XP_005263605.1:n.-5+81del
XM_005263543.3:c.-5+81del	XP_005263600.1:n.-5+81del
XM_005263545.3:c.-5+557del	XP_005263602.1:n.-5+557del
XM_005263547.3:c.-5+557del	XP_005263604.1:n.-5+557del
XM_005263548.3:c.-5+81del	XP_005263605.1:n.-5+81del
XM_024451299.1:c.-5+81del	XP_024307067.1:n.-5+81del
NM_014874.4:c.-5+557del MANE Select	NP_055689.1:n.-5+557del
NM_001127660.2:c.-5+2187del	NP_001121132.1:n.-5+2187del