Canonical Allele Identifier: CA2742488609
Gene: MFN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.12002383_12002389del , CM000663.2:g.12002383_12002389del GRCh38
NC_000001.10:g.12062440_12062446del , CM000663.1:g.12062440_12062446del GRCh37
NC_000001.9:g.11985027_11985033del NCBI36
NG_007945.1:g.27203_27209del , LRG_255:g.27203_27209del

Transcript Alleles

HGVS Amino-acid Change
ENST00000235329.10:c.1160+280_1160+286del MANE Select ENSP00000235329.5:n.1160+280_1160+286del
ENST00000674548.1:c.1160+280_1160+286del ENSP00000502185.1:n.1160+280_1160+286del
ENST00000674658.1:c.815+280_815+286del ENSP00000502334.1:n.815+280_815+286del
ENST00000674817.1:c.1160+280_1160+286del ENSP00000502151.1:n.1160+280_1160+286del
ENST00000674910.1:c.1160+280_1160+286del ENSP00000501716.1:n.1160+280_1160+286del
ENST00000675053.1:c.1160+280_1160+286del ENSP00000501646.1:n.1160+280_1160+286del
ENST00000675113.1:c.1160+280_1160+286del ENSP00000502623.1:n.1160+280_1160+286del
ENST00000675194.1:n.1865_1871del
ENST00000675231.1:c.1160+280_1160+286del ENSP00000502404.1:n.1160+280_1160+286del
ENST00000675298.1:c.1160+280_1160+286del ENSP00000501839.1:n.1160+280_1160+286del
ENST00000675404.1:n.1395+280_1395+286del
ENST00000675483.1:n.1288+280_1288+286del
ENST00000675512.1:c.*1162+280_*1162+286del ENSP00000502630.1:n.*1162+280_*1162+286del
ENST00000675528.1:n.651+280_651+286del
ENST00000675817.1:c.1160+280_1160+286del ENSP00000502422.1:n.1160+280_1160+286del
ENST00000675872.1:n.1520+280_1520+286del
ENST00000675919.1:c.1160+280_1160+286del ENSP00000501776.1:n.1160+280_1160+286del
ENST00000675959.1:n.1666+280_1666+286del
ENST00000675987.1:c.1160+280_1160+286del ENSP00000502145.1:n.1160+280_1160+286del
ENST00000676293.1:c.1160+280_1160+286del ENSP00000502362.1:n.1160+280_1160+286del
ENST00000676426.1:c.*160+280_*160+286del ENSP00000502359.1:n.*160+280_*160+286del
ENST00000235329.9:c.1160+280_1160+286del ENSP00000235329.5:n.1160+280_1160+286del
ENST00000444836.5:c.1160+280_1160+286del ENSP00000416338.1:n.1160+280_1160+286del
NM_001127660.1:c.1160+280_1160+286del NP_001121132.1:n.1160+280_1160+286del
NM_014874.3:c.1160+280_1160+286del , LRG_255t1:c.1160+280_1160+286del NP_055689.1:n.1160+280_1160+286del
XM_005263543.2:c.1160+280_1160+286del XP_005263600.1:n.1160+280_1160+286del
XM_005263545.2:c.1160+280_1160+286del XP_005263602.1:n.1160+280_1160+286del
XM_005263547.2:c.1160+280_1160+286del XP_005263604.1:n.1160+280_1160+286del
XM_005263548.2:c.1160+280_1160+286del XP_005263605.1:n.1160+280_1160+286del
XM_005263543.3:c.1160+280_1160+286del XP_005263600.1:n.1160+280_1160+286del
XM_005263545.3:c.1160+280_1160+286del XP_005263602.1:n.1160+280_1160+286del
XM_005263547.3:c.1160+280_1160+286del XP_005263604.1:n.1160+280_1160+286del
XM_005263548.3:c.1160+280_1160+286del XP_005263605.1:n.1160+280_1160+286del
XM_024451299.1:c.1160+280_1160+286del XP_024307067.1:n.1160+280_1160+286del
NM_014874.4:c.1160+280_1160+286del MANE Select NP_055689.1:n.1160+280_1160+286del
NM_001127660.2:c.1160+280_1160+286del NP_001121132.1:n.1160+280_1160+286del