Canonical Allele Identifier: CA2742488166
Gene: MFN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11999210_11999213del , CM000663.2:g.11999210_11999213del GRCh38
NC_000001.10:g.12059267_12059270del , CM000663.1:g.12059267_12059270del GRCh37
NC_000001.9:g.11981854_11981857del NCBI36
NG_007945.1:g.24030_24033del , LRG_255:g.24030_24033del

Transcript Alleles

HGVS Amino-acid Change
ENST00000235329.10:c.816+115_816+118del MANE Select ENSP00000235329.5:n.816+115_816+118del
ENST00000674548.1:c.816+115_816+118del ENSP00000502185.1:n.816+115_816+118del
ENST00000674658.1:c.471+115_471+118del ENSP00000502334.1:n.471+115_471+118del
ENST00000674706.1:n.1370_1373del
ENST00000674817.1:c.816+115_816+118del ENSP00000502151.1:n.816+115_816+118del
ENST00000674910.1:c.816+115_816+118del ENSP00000501716.1:n.816+115_816+118del
ENST00000675053.1:c.816+115_816+118del ENSP00000501646.1:n.816+115_816+118del
ENST00000675113.1:c.816+115_816+118del ENSP00000502623.1:n.816+115_816+118del
ENST00000675194.1:n.1241+115_1241+118del
ENST00000675231.1:c.816+115_816+118del ENSP00000502404.1:n.816+115_816+118del
ENST00000675298.1:c.816+115_816+118del ENSP00000501839.1:n.816+115_816+118del
ENST00000675483.1:n.944+115_944+118del
ENST00000675512.1:c.*818+115_*818+118del ENSP00000502630.1:n.*818+115_*818+118del
ENST00000675528.1:n.307+115_307+118del
ENST00000675817.1:c.816+115_816+118del ENSP00000502422.1:n.816+115_816+118del
ENST00000675872.1:n.1176+115_1176+118del
ENST00000675919.1:c.816+115_816+118del ENSP00000501776.1:n.816+115_816+118del
ENST00000675959.1:n.1322+115_1322+118del
ENST00000675987.1:c.816+115_816+118del ENSP00000502145.1:n.816+115_816+118del
ENST00000676293.1:c.816+115_816+118del ENSP00000502362.1:n.816+115_816+118del
ENST00000676426.1:c.599+1789_599+1792del ENSP00000502359.1:n.599+1789_599+1792del
ENST00000235329.9:c.816+115_816+118del ENSP00000235329.5:n.816+115_816+118del
ENST00000444836.5:c.816+115_816+118del ENSP00000416338.1:n.816+115_816+118del
NM_001127660.1:c.816+115_816+118del NP_001121132.1:n.816+115_816+118del
NM_014874.3:c.816+115_816+118del , LRG_255t1:c.816+115_816+118del NP_055689.1:n.816+115_816+118del
XM_005263543.2:c.816+115_816+118del XP_005263600.1:n.816+115_816+118del
XM_005263545.2:c.816+115_816+118del XP_005263602.1:n.816+115_816+118del
XM_005263547.2:c.816+115_816+118del XP_005263604.1:n.816+115_816+118del
XM_005263548.2:c.816+115_816+118del XP_005263605.1:n.816+115_816+118del
XM_005263543.3:c.816+115_816+118del XP_005263600.1:n.816+115_816+118del
XM_005263545.3:c.816+115_816+118del XP_005263602.1:n.816+115_816+118del
XM_005263547.3:c.816+115_816+118del XP_005263604.1:n.816+115_816+118del
XM_005263548.3:c.816+115_816+118del XP_005263605.1:n.816+115_816+118del
XM_024451299.1:c.816+115_816+118del XP_024307067.1:n.816+115_816+118del
NM_014874.4:c.816+115_816+118del MANE Select NP_055689.1:n.816+115_816+118del
NM_001127660.2:c.816+115_816+118del NP_001121132.1:n.816+115_816+118del