Canonical Allele Identifier: CA2742486983

Gene: MFN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11982324_11982325del , CM000663.2:g.11982324_11982325del	GRCh38
NC_000001.10:g.12042381_12042382del , CM000663.1:g.12042381_12042382del	GRCh37
NC_000001.9:g.11964968_11964969del	NCBI36
NG_007945.1:g.7144_7145del , LRG_255:g.7144_7145del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.-5+210_-5+211del MANE Select	ENSP00000235329.5:n.-5+210_-5+211del
ENST00000412236.2:c.-72-199_-72-198del	ENSP00000412023.1:n.-72-199_-72-198del
ENST00000674548.1:c.-95+1840_-95+1841del	ENSP00000502185.1:n.-95+1840_-95+1841del
ENST00000674658.1:c.-102-199_-102-198del	ENSP00000502334.1:n.-102-199_-102-198del
ENST00000674706.1:n.368-199_368-198del
ENST00000674817.1:c.-5+1840_-5+1841del	ENSP00000502151.1:n.-5+1840_-5+1841del
ENST00000674910.1:c.-127+1840_-127+1841del	ENSP00000501716.1:n.-127+1840_-127+1841del
ENST00000675053.1:c.-5+210_-5+211del	ENSP00000501646.1:n.-5+210_-5+211del
ENST00000675113.1:c.-67+210_-67+211del	ENSP00000502623.1:n.-67+210_-67+211del
ENST00000675194.1:n.421+210_421+211del
ENST00000675231.1:c.-72-199_-72-198del	ENSP00000502404.1:n.-72-199_-72-198del
ENST00000675298.1:c.-5+210_-5+211del	ENSP00000501839.1:n.-5+210_-5+211del
ENST00000675512.1:c.-5+210_-5+211del	ENSP00000502630.1:n.-5+210_-5+211del
ENST00000675530.1:c.-5+210_-5+211del	ENSP00000501972.1:n.-5+210_-5+211del
ENST00000675781.1:c.-5+210_-5+211del	ENSP00000501947.1:n.-5+210_-5+211del
ENST00000675817.1:c.-5+210_-5+211del	ENSP00000502422.1:n.-5+210_-5+211del
ENST00000675872.1:n.247+1840_247+1841del
ENST00000675919.1:c.-95+210_-95+211del	ENSP00000501776.1:n.-95+210_-95+211del
ENST00000675959.1:n.393+210_393+211del
ENST00000675987.1:c.-5+210_-5+211del	ENSP00000502145.1:n.-5+210_-5+211del
ENST00000676293.1:c.-127+210_-127+211del	ENSP00000502362.1:n.-127+210_-127+211del
ENST00000676369.1:c.-72-199_-72-198del	ENSP00000502005.1:n.-72-199_-72-198del
ENST00000676426.1:c.-5+210_-5+211del	ENSP00000502359.1:n.-5+210_-5+211del
ENST00000235329.9:c.-5+210_-5+211del	ENSP00000235329.5:n.-5+210_-5+211del
ENST00000412236.1:c.-72-199_-72-198del	ENSP00000412023.1:n.-72-199_-72-198del
ENST00000444836.5:c.-5+1840_-5+1841del	ENSP00000416338.1:n.-5+1840_-5+1841del
ENST00000484391.5:n.115+1840_115+1841del
ENST00000490079.5:n.375+210_375+211del
ENST00000497302.1:n.195+210_195+211del
NM_001127660.1:c.-5+1840_-5+1841del	NP_001121132.1:n.-5+1840_-5+1841del
NM_014874.3:c.-5+210_-5+211del , LRG_255t1:c.-5+210_-5+211del	NP_055689.1:n.-5+210_-5+211del
XM_005263543.2:c.-72-199_-72-198del	XP_005263600.1:n.-72-199_-72-198del
XM_005263545.2:c.-5+210_-5+211del	XP_005263602.1:n.-5+210_-5+211del
XM_005263547.2:c.-5+210_-5+211del	XP_005263604.1:n.-5+210_-5+211del
XM_005263548.2:c.-72-199_-72-198del	XP_005263605.1:n.-72-199_-72-198del
XM_005263543.3:c.-72-199_-72-198del	XP_005263600.1:n.-72-199_-72-198del
XM_005263545.3:c.-5+210_-5+211del	XP_005263602.1:n.-5+210_-5+211del
XM_005263547.3:c.-5+210_-5+211del	XP_005263604.1:n.-5+210_-5+211del
XM_005263548.3:c.-72-199_-72-198del	XP_005263605.1:n.-72-199_-72-198del
XM_024451299.1:c.-72-199_-72-198del	XP_024307067.1:n.-72-199_-72-198del
NM_014874.4:c.-5+210_-5+211del MANE Select	NP_055689.1:n.-5+210_-5+211del
NM_001127660.2:c.-5+1840_-5+1841del	NP_001121132.1:n.-5+1840_-5+1841del