Canonical Allele Identifier: CA2742488196
Gene: MFN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11999223_11999225del , CM000663.2:g.11999223_11999225del GRCh38
NC_000001.10:g.12059280_12059282del , CM000663.1:g.12059280_12059282del GRCh37
NC_000001.9:g.11981867_11981869del NCBI36
NG_007945.1:g.24043_24045del , LRG_255:g.24043_24045del

Transcript Alleles

HGVS Amino-acid Change
ENST00000235329.10:c.816+128_816+130del MANE Select ENSP00000235329.5:n.816+128_816+130del
ENST00000674548.1:c.816+128_816+130del ENSP00000502185.1:n.816+128_816+130del
ENST00000674658.1:c.471+128_471+130del ENSP00000502334.1:n.471+128_471+130del
ENST00000674706.1:n.1383_1385del
ENST00000674817.1:c.816+128_816+130del ENSP00000502151.1:n.816+128_816+130del
ENST00000674910.1:c.816+128_816+130del ENSP00000501716.1:n.816+128_816+130del
ENST00000675053.1:c.816+128_816+130del ENSP00000501646.1:n.816+128_816+130del
ENST00000675113.1:c.816+128_816+130del ENSP00000502623.1:n.816+128_816+130del
ENST00000675194.1:n.1241+128_1241+130del
ENST00000675231.1:c.816+128_816+130del ENSP00000502404.1:n.816+128_816+130del
ENST00000675298.1:c.816+128_816+130del ENSP00000501839.1:n.816+128_816+130del
ENST00000675483.1:n.944+128_944+130del
ENST00000675512.1:c.*818+128_*818+130del ENSP00000502630.1:n.*818+128_*818+130del
ENST00000675528.1:n.307+128_307+130del
ENST00000675817.1:c.816+128_816+130del ENSP00000502422.1:n.816+128_816+130del
ENST00000675872.1:n.1176+128_1176+130del
ENST00000675919.1:c.816+128_816+130del ENSP00000501776.1:n.816+128_816+130del
ENST00000675959.1:n.1322+128_1322+130del
ENST00000675987.1:c.816+128_816+130del ENSP00000502145.1:n.816+128_816+130del
ENST00000676293.1:c.816+128_816+130del ENSP00000502362.1:n.816+128_816+130del
ENST00000676426.1:c.599+1802_599+1804del ENSP00000502359.1:n.599+1802_599+1804del
ENST00000235329.9:c.816+128_816+130del ENSP00000235329.5:n.816+128_816+130del
ENST00000444836.5:c.816+128_816+130del ENSP00000416338.1:n.816+128_816+130del
NM_001127660.1:c.816+128_816+130del NP_001121132.1:n.816+128_816+130del
NM_014874.3:c.816+128_816+130del , LRG_255t1:c.816+128_816+130del NP_055689.1:n.816+128_816+130del
XM_005263543.2:c.816+128_816+130del XP_005263600.1:n.816+128_816+130del
XM_005263545.2:c.816+128_816+130del XP_005263602.1:n.816+128_816+130del
XM_005263547.2:c.816+128_816+130del XP_005263604.1:n.816+128_816+130del
XM_005263548.2:c.816+128_816+130del XP_005263605.1:n.816+128_816+130del
XM_005263543.3:c.816+128_816+130del XP_005263600.1:n.816+128_816+130del
XM_005263545.3:c.816+128_816+130del XP_005263602.1:n.816+128_816+130del
XM_005263547.3:c.816+128_816+130del XP_005263604.1:n.816+128_816+130del
XM_005263548.3:c.816+128_816+130del XP_005263605.1:n.816+128_816+130del
XM_024451299.1:c.816+128_816+130del XP_024307067.1:n.816+128_816+130del
NM_014874.4:c.816+128_816+130del MANE Select NP_055689.1:n.816+128_816+130del
NM_001127660.2:c.816+128_816+130del NP_001121132.1:n.816+128_816+130del