Canonical Allele Identifier: CA2742486859
Gene: MFN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11982247_11982250del , CM000663.2:g.11982247_11982250del GRCh38
NC_000001.10:g.12042304_12042307del , CM000663.1:g.12042304_12042307del GRCh37
NC_000001.9:g.11964891_11964894del NCBI36
NG_007945.1:g.7067_7070del , LRG_255:g.7067_7070del

Transcript Alleles

HGVS Amino-acid Change
ENST00000235329.10:c.-5+133_-5+136del MANE Select ENSP00000235329.5:n.-5+133_-5+136del
ENST00000412236.2:c.-73+133_-73+136del ENSP00000412023.1:n.-73+133_-73+136del
ENST00000674548.1:c.-95+1763_-95+1766del ENSP00000502185.1:n.-95+1763_-95+1766del
ENST00000674658.1:c.-103+133_-103+136del ENSP00000502334.1:n.-103+133_-103+136del
ENST00000674706.1:n.367+133_367+136del
ENST00000674817.1:c.-5+1763_-5+1766del ENSP00000502151.1:n.-5+1763_-5+1766del
ENST00000674910.1:c.-127+1763_-127+1766del ENSP00000501716.1:n.-127+1763_-127+1766del
ENST00000675053.1:c.-5+133_-5+136del ENSP00000501646.1:n.-5+133_-5+136del
ENST00000675113.1:c.-67+133_-67+136del ENSP00000502623.1:n.-67+133_-67+136del
ENST00000675194.1:n.421+133_421+136del
ENST00000675231.1:c.-73+133_-73+136del ENSP00000502404.1:n.-73+133_-73+136del
ENST00000675298.1:c.-5+133_-5+136del ENSP00000501839.1:n.-5+133_-5+136del
ENST00000675512.1:c.-5+133_-5+136del ENSP00000502630.1:n.-5+133_-5+136del
ENST00000675530.1:c.-5+133_-5+136del ENSP00000501972.1:n.-5+133_-5+136del
ENST00000675781.1:c.-5+133_-5+136del ENSP00000501947.1:n.-5+133_-5+136del
ENST00000675817.1:c.-5+133_-5+136del ENSP00000502422.1:n.-5+133_-5+136del
ENST00000675872.1:n.247+1763_247+1766del
ENST00000675919.1:c.-95+133_-95+136del ENSP00000501776.1:n.-95+133_-95+136del
ENST00000675959.1:n.393+133_393+136del
ENST00000675987.1:c.-5+133_-5+136del ENSP00000502145.1:n.-5+133_-5+136del
ENST00000676293.1:c.-127+133_-127+136del ENSP00000502362.1:n.-127+133_-127+136del
ENST00000676369.1:c.-73+133_-73+136del ENSP00000502005.1:n.-73+133_-73+136del
ENST00000676426.1:c.-5+133_-5+136del ENSP00000502359.1:n.-5+133_-5+136del
ENST00000235329.9:c.-5+133_-5+136del ENSP00000235329.5:n.-5+133_-5+136del
ENST00000412236.1:c.-73+133_-73+136del ENSP00000412023.1:n.-73+133_-73+136del
ENST00000444836.5:c.-5+1763_-5+1766del ENSP00000416338.1:n.-5+1763_-5+1766del
ENST00000484391.5:n.115+1763_115+1766del
ENST00000490079.5:n.375+133_375+136del
ENST00000497302.1:n.195+133_195+136del
NM_001127660.1:c.-5+1763_-5+1766del NP_001121132.1:n.-5+1763_-5+1766del
NM_014874.3:c.-5+133_-5+136del , LRG_255t1:c.-5+133_-5+136del NP_055689.1:n.-5+133_-5+136del
XM_005263543.2:c.-73+133_-73+136del XP_005263600.1:n.-73+133_-73+136del
XM_005263545.2:c.-5+133_-5+136del XP_005263602.1:n.-5+133_-5+136del
XM_005263547.2:c.-5+133_-5+136del XP_005263604.1:n.-5+133_-5+136del
XM_005263548.2:c.-73+133_-73+136del XP_005263605.1:n.-73+133_-73+136del
XM_005263543.3:c.-73+133_-73+136del XP_005263600.1:n.-73+133_-73+136del
XM_005263545.3:c.-5+133_-5+136del XP_005263602.1:n.-5+133_-5+136del
XM_005263547.3:c.-5+133_-5+136del XP_005263604.1:n.-5+133_-5+136del
XM_005263548.3:c.-73+133_-73+136del XP_005263605.1:n.-73+133_-73+136del
XM_024451299.1:c.-73+133_-73+136del XP_024307067.1:n.-73+133_-73+136del
NM_014874.4:c.-5+133_-5+136del MANE Select NP_055689.1:n.-5+133_-5+136del
NM_001127660.2:c.-5+1763_-5+1766del NP_001121132.1:n.-5+1763_-5+1766del