Canonical Allele Identifier: CA2742486951
Gene: MFN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11982290_11982291del , CM000663.2:g.11982290_11982291del GRCh38
NC_000001.10:g.12042347_12042348del , CM000663.1:g.12042347_12042348del GRCh37
NC_000001.9:g.11964934_11964935del NCBI36
NG_007945.1:g.7110_7111del , LRG_255:g.7110_7111del

Transcript Alleles

HGVS Amino-acid Change
ENST00000235329.10:c.-5+176_-5+177del MANE Select ENSP00000235329.5:n.-5+176_-5+177del
ENST00000412236.2:c.-73+176_-73+177del ENSP00000412023.1:n.-73+176_-73+177del
ENST00000674548.1:c.-95+1806_-95+1807del ENSP00000502185.1:n.-95+1806_-95+1807del
ENST00000674658.1:c.-103+176_-103+177del ENSP00000502334.1:n.-103+176_-103+177del
ENST00000674706.1:n.367+176_367+177del
ENST00000674817.1:c.-5+1806_-5+1807del ENSP00000502151.1:n.-5+1806_-5+1807del
ENST00000674910.1:c.-127+1806_-127+1807del ENSP00000501716.1:n.-127+1806_-127+1807del
ENST00000675053.1:c.-5+176_-5+177del ENSP00000501646.1:n.-5+176_-5+177del
ENST00000675113.1:c.-67+176_-67+177del ENSP00000502623.1:n.-67+176_-67+177del
ENST00000675194.1:n.421+176_421+177del
ENST00000675231.1:c.-73+176_-73+177del ENSP00000502404.1:n.-73+176_-73+177del
ENST00000675298.1:c.-5+176_-5+177del ENSP00000501839.1:n.-5+176_-5+177del
ENST00000675512.1:c.-5+176_-5+177del ENSP00000502630.1:n.-5+176_-5+177del
ENST00000675530.1:c.-5+176_-5+177del ENSP00000501972.1:n.-5+176_-5+177del
ENST00000675781.1:c.-5+176_-5+177del ENSP00000501947.1:n.-5+176_-5+177del
ENST00000675817.1:c.-5+176_-5+177del ENSP00000502422.1:n.-5+176_-5+177del
ENST00000675872.1:n.247+1806_247+1807del
ENST00000675919.1:c.-95+176_-95+177del ENSP00000501776.1:n.-95+176_-95+177del
ENST00000675959.1:n.393+176_393+177del
ENST00000675987.1:c.-5+176_-5+177del ENSP00000502145.1:n.-5+176_-5+177del
ENST00000676293.1:c.-127+176_-127+177del ENSP00000502362.1:n.-127+176_-127+177del
ENST00000676369.1:c.-73+176_-73+177del ENSP00000502005.1:n.-73+176_-73+177del
ENST00000676426.1:c.-5+176_-5+177del ENSP00000502359.1:n.-5+176_-5+177del
ENST00000235329.9:c.-5+176_-5+177del ENSP00000235329.5:n.-5+176_-5+177del
ENST00000412236.1:c.-73+176_-73+177del ENSP00000412023.1:n.-73+176_-73+177del
ENST00000444836.5:c.-5+1806_-5+1807del ENSP00000416338.1:n.-5+1806_-5+1807del
ENST00000484391.5:n.115+1806_115+1807del
ENST00000490079.5:n.375+176_375+177del
ENST00000497302.1:n.195+176_195+177del
NM_001127660.1:c.-5+1806_-5+1807del NP_001121132.1:n.-5+1806_-5+1807del
NM_014874.3:c.-5+176_-5+177del , LRG_255t1:c.-5+176_-5+177del NP_055689.1:n.-5+176_-5+177del
XM_005263543.2:c.-73+176_-73+177del XP_005263600.1:n.-73+176_-73+177del
XM_005263545.2:c.-5+176_-5+177del XP_005263602.1:n.-5+176_-5+177del
XM_005263547.2:c.-5+176_-5+177del XP_005263604.1:n.-5+176_-5+177del
XM_005263548.2:c.-73+176_-73+177del XP_005263605.1:n.-73+176_-73+177del
XM_005263543.3:c.-73+176_-73+177del XP_005263600.1:n.-73+176_-73+177del
XM_005263545.3:c.-5+176_-5+177del XP_005263602.1:n.-5+176_-5+177del
XM_005263547.3:c.-5+176_-5+177del XP_005263604.1:n.-5+176_-5+177del
XM_005263548.3:c.-73+176_-73+177del XP_005263605.1:n.-73+176_-73+177del
XM_024451299.1:c.-73+176_-73+177del XP_024307067.1:n.-73+176_-73+177del
NM_014874.4:c.-5+176_-5+177del MANE Select NP_055689.1:n.-5+176_-5+177del
NM_001127660.2:c.-5+1806_-5+1807del NP_001121132.1:n.-5+1806_-5+1807del