Canonical Allele Identifier: CA2742488493
Gene: MFN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.12002269_12002270insAGAT , CM000663.2:g.12002269_12002270insAGAT GRCh38
NC_000001.10:g.12062326_12062327insAGAT , CM000663.1:g.12062326_12062327insAGAT GRCh37
NC_000001.9:g.11984913_11984914insAGAT NCBI36
NG_007945.1:g.27089_27090insAGAT , LRG_255:g.27089_27090insAGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000235329.10:c.1160+166_1160+167insAGAT MANE Select ENSP00000235329.5:n.1160+166_1160+167insAGAT
ENST00000674548.1:c.1160+166_1160+167insAGAT ENSP00000502185.1:n.1160+166_1160+167insAGAT
ENST00000674658.1:c.815+166_815+167insAGAT ENSP00000502334.1:n.815+166_815+167insAGAT
ENST00000674817.1:c.1160+166_1160+167insAGAT ENSP00000502151.1:n.1160+166_1160+167insAGAT
ENST00000674910.1:c.1160+166_1160+167insAGAT ENSP00000501716.1:n.1160+166_1160+167insAGAT
ENST00000675053.1:c.1160+166_1160+167insAGAT ENSP00000501646.1:n.1160+166_1160+167insAGAT
ENST00000675113.1:c.1160+166_1160+167insAGAT ENSP00000502623.1:n.1160+166_1160+167insAGAT
ENST00000675194.1:n.1751_1752insAGAT
ENST00000675231.1:c.1160+166_1160+167insAGAT ENSP00000502404.1:n.1160+166_1160+167insAGAT
ENST00000675298.1:c.1160+166_1160+167insAGAT ENSP00000501839.1:n.1160+166_1160+167insAGAT
ENST00000675404.1:n.1395+166_1395+167insAGAT
ENST00000675483.1:n.1288+166_1288+167insAGAT
ENST00000675512.1:c.*1162+166_*1162+167insAGAT ENSP00000502630.1:n.*1162+166_*1162+167insAGAT
ENST00000675528.1:n.651+166_651+167insAGAT
ENST00000675817.1:c.1160+166_1160+167insAGAT ENSP00000502422.1:n.1160+166_1160+167insAGAT
ENST00000675872.1:n.1520+166_1520+167insAGAT
ENST00000675919.1:c.1160+166_1160+167insAGAT ENSP00000501776.1:n.1160+166_1160+167insAGAT
ENST00000675959.1:n.1666+166_1666+167insAGAT
ENST00000675987.1:c.1160+166_1160+167insAGAT ENSP00000502145.1:n.1160+166_1160+167insAGAT
ENST00000676293.1:c.1160+166_1160+167insAGAT ENSP00000502362.1:n.1160+166_1160+167insAGAT
ENST00000676426.1:c.*160+166_*160+167insAGAT ENSP00000502359.1:n.*160+166_*160+167insAGAT
ENST00000235329.9:c.1160+166_1160+167insAGAT ENSP00000235329.5:n.1160+166_1160+167insAGAT
ENST00000444836.5:c.1160+166_1160+167insAGAT ENSP00000416338.1:n.1160+166_1160+167insAGAT
NM_001127660.1:c.1160+166_1160+167insAGAT NP_001121132.1:n.1160+166_1160+167insAGAT
NM_014874.3:c.1160+166_1160+167insAGAT , LRG_255t1:c.1160+166_1160+167insAGAT NP_055689.1:n.1160+166_1160+167insAGAT
XM_005263543.2:c.1160+166_1160+167insAGAT XP_005263600.1:n.1160+166_1160+167insAGAT
XM_005263545.2:c.1160+166_1160+167insAGAT XP_005263602.1:n.1160+166_1160+167insAGAT
XM_005263547.2:c.1160+166_1160+167insAGAT XP_005263604.1:n.1160+166_1160+167insAGAT
XM_005263548.2:c.1160+166_1160+167insAGAT XP_005263605.1:n.1160+166_1160+167insAGAT
XM_005263543.3:c.1160+166_1160+167insAGAT XP_005263600.1:n.1160+166_1160+167insAGAT
XM_005263545.3:c.1160+166_1160+167insAGAT XP_005263602.1:n.1160+166_1160+167insAGAT
XM_005263547.3:c.1160+166_1160+167insAGAT XP_005263604.1:n.1160+166_1160+167insAGAT
XM_005263548.3:c.1160+166_1160+167insAGAT XP_005263605.1:n.1160+166_1160+167insAGAT
XM_024451299.1:c.1160+166_1160+167insAGAT XP_024307067.1:n.1160+166_1160+167insAGAT
NM_014874.4:c.1160+166_1160+167insAGAT MANE Select NP_055689.1:n.1160+166_1160+167insAGAT
NM_001127660.2:c.1160+166_1160+167insAGAT NP_001121132.1:n.1160+166_1160+167insAGAT