Canonical Allele Identifier: CA2742486935
Gene: MFN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11982283_11982285del , CM000663.2:g.11982283_11982285del GRCh38
NC_000001.10:g.12042340_12042342del , CM000663.1:g.12042340_12042342del GRCh37
NC_000001.9:g.11964927_11964929del NCBI36
NG_007945.1:g.7103_7105del , LRG_255:g.7103_7105del

Transcript Alleles

HGVS Amino-acid Change
ENST00000235329.10:c.-5+169_-5+171del MANE Select ENSP00000235329.5:n.-5+169_-5+171del
ENST00000412236.2:c.-73+169_-73+171del ENSP00000412023.1:n.-73+169_-73+171del
ENST00000674548.1:c.-95+1799_-95+1801del ENSP00000502185.1:n.-95+1799_-95+1801del
ENST00000674658.1:c.-103+169_-103+171del ENSP00000502334.1:n.-103+169_-103+171del
ENST00000674706.1:n.367+169_367+171del
ENST00000674817.1:c.-5+1799_-5+1801del ENSP00000502151.1:n.-5+1799_-5+1801del
ENST00000674910.1:c.-127+1799_-127+1801del ENSP00000501716.1:n.-127+1799_-127+1801del
ENST00000675053.1:c.-5+169_-5+171del ENSP00000501646.1:n.-5+169_-5+171del
ENST00000675113.1:c.-67+169_-67+171del ENSP00000502623.1:n.-67+169_-67+171del
ENST00000675194.1:n.421+169_421+171del
ENST00000675231.1:c.-73+169_-73+171del ENSP00000502404.1:n.-73+169_-73+171del
ENST00000675298.1:c.-5+169_-5+171del ENSP00000501839.1:n.-5+169_-5+171del
ENST00000675512.1:c.-5+169_-5+171del ENSP00000502630.1:n.-5+169_-5+171del
ENST00000675530.1:c.-5+169_-5+171del ENSP00000501972.1:n.-5+169_-5+171del
ENST00000675781.1:c.-5+169_-5+171del ENSP00000501947.1:n.-5+169_-5+171del
ENST00000675817.1:c.-5+169_-5+171del ENSP00000502422.1:n.-5+169_-5+171del
ENST00000675872.1:n.247+1799_247+1801del
ENST00000675919.1:c.-95+169_-95+171del ENSP00000501776.1:n.-95+169_-95+171del
ENST00000675959.1:n.393+169_393+171del
ENST00000675987.1:c.-5+169_-5+171del ENSP00000502145.1:n.-5+169_-5+171del
ENST00000676293.1:c.-127+169_-127+171del ENSP00000502362.1:n.-127+169_-127+171del
ENST00000676369.1:c.-73+169_-73+171del ENSP00000502005.1:n.-73+169_-73+171del
ENST00000676426.1:c.-5+169_-5+171del ENSP00000502359.1:n.-5+169_-5+171del
ENST00000235329.9:c.-5+169_-5+171del ENSP00000235329.5:n.-5+169_-5+171del
ENST00000412236.1:c.-73+169_-73+171del ENSP00000412023.1:n.-73+169_-73+171del
ENST00000444836.5:c.-5+1799_-5+1801del ENSP00000416338.1:n.-5+1799_-5+1801del
ENST00000484391.5:n.115+1799_115+1801del
ENST00000490079.5:n.375+169_375+171del
ENST00000497302.1:n.195+169_195+171del
NM_001127660.1:c.-5+1799_-5+1801del NP_001121132.1:n.-5+1799_-5+1801del
NM_014874.3:c.-5+169_-5+171del , LRG_255t1:c.-5+169_-5+171del NP_055689.1:n.-5+169_-5+171del
XM_005263543.2:c.-73+169_-73+171del XP_005263600.1:n.-73+169_-73+171del
XM_005263545.2:c.-5+169_-5+171del XP_005263602.1:n.-5+169_-5+171del
XM_005263547.2:c.-5+169_-5+171del XP_005263604.1:n.-5+169_-5+171del
XM_005263548.2:c.-73+169_-73+171del XP_005263605.1:n.-73+169_-73+171del
XM_005263543.3:c.-73+169_-73+171del XP_005263600.1:n.-73+169_-73+171del
XM_005263545.3:c.-5+169_-5+171del XP_005263602.1:n.-5+169_-5+171del
XM_005263547.3:c.-5+169_-5+171del XP_005263604.1:n.-5+169_-5+171del
XM_005263548.3:c.-73+169_-73+171del XP_005263605.1:n.-73+169_-73+171del
XM_024451299.1:c.-73+169_-73+171del XP_024307067.1:n.-73+169_-73+171del
NM_014874.4:c.-5+169_-5+171del MANE Select NP_055689.1:n.-5+169_-5+171del
NM_001127660.2:c.-5+1799_-5+1801del NP_001121132.1:n.-5+1799_-5+1801del