Canonical Allele Identifier: CA2742487815
Gene: MFN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11992823_11992824insCAG , CM000663.2:g.11992823_11992824insCAG GRCh38
NC_000001.10:g.12052880_12052881insCAG , CM000663.1:g.12052880_12052881insCAG GRCh37
NC_000001.9:g.11975467_11975468insCAG NCBI36
NG_007945.1:g.17643_17644insCAG , LRG_255:g.17643_17644insCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000235329.10:c.311+133_311+134insCAG MANE Select ENSP00000235329.5:n.311+133_311+134insCAG
ENST00000674548.1:c.311+133_311+134insCAG ENSP00000502185.1:n.311+133_311+134insCAG
ENST00000674658.1:c.-34-3333_-34-3332insCAG ENSP00000502334.1:n.-34-3333_-34-3332insCAG
ENST00000674706.1:n.750+133_750+134insCAG
ENST00000674817.1:c.311+133_311+134insCAG ENSP00000502151.1:n.311+133_311+134insCAG
ENST00000674910.1:c.311+133_311+134insCAG ENSP00000501716.1:n.311+133_311+134insCAG
ENST00000675053.1:c.311+133_311+134insCAG ENSP00000501646.1:n.311+133_311+134insCAG
ENST00000675113.1:c.311+133_311+134insCAG ENSP00000502623.1:n.311+133_311+134insCAG
ENST00000675194.1:n.736+133_736+134insCAG
ENST00000675231.1:c.311+133_311+134insCAG ENSP00000502404.1:n.311+133_311+134insCAG
ENST00000675298.1:c.311+133_311+134insCAG ENSP00000501839.1:n.311+133_311+134insCAG
ENST00000675483.1:n.439+133_439+134insCAG
ENST00000675512.1:c.*313+133_*313+134insCAG ENSP00000502630.1:n.*313+133_*313+134insCAG
ENST00000675817.1:c.311+133_311+134insCAG ENSP00000502422.1:n.311+133_311+134insCAG
ENST00000675872.1:n.562+133_562+134insCAG
ENST00000675919.1:c.311+133_311+134insCAG ENSP00000501776.1:n.311+133_311+134insCAG
ENST00000675959.1:n.708+133_708+134insCAG
ENST00000675987.1:c.311+133_311+134insCAG ENSP00000502145.1:n.311+133_311+134insCAG
ENST00000676293.1:c.311+133_311+134insCAG ENSP00000502362.1:n.311+133_311+134insCAG
ENST00000676426.1:c.311+133_311+134insCAG ENSP00000502359.1:n.311+133_311+134insCAG
ENST00000235329.9:c.311+133_311+134insCAG ENSP00000235329.5:n.311+133_311+134insCAG
ENST00000444836.5:c.311+133_311+134insCAG ENSP00000416338.1:n.311+133_311+134insCAG
NM_001127660.1:c.311+133_311+134insCAG NP_001121132.1:n.311+133_311+134insCAG
NM_014874.3:c.311+133_311+134insCAG , LRG_255t1:c.311+133_311+134insCAG NP_055689.1:n.311+133_311+134insCAG
XM_005263543.2:c.311+133_311+134insCAG XP_005263600.1:n.311+133_311+134insCAG
XM_005263545.2:c.311+133_311+134insCAG XP_005263602.1:n.311+133_311+134insCAG
XM_005263547.2:c.311+133_311+134insCAG XP_005263604.1:n.311+133_311+134insCAG
XM_005263548.2:c.311+133_311+134insCAG XP_005263605.1:n.311+133_311+134insCAG
XM_005263543.3:c.311+133_311+134insCAG XP_005263600.1:n.311+133_311+134insCAG
XM_005263545.3:c.311+133_311+134insCAG XP_005263602.1:n.311+133_311+134insCAG
XM_005263547.3:c.311+133_311+134insCAG XP_005263604.1:n.311+133_311+134insCAG
XM_005263548.3:c.311+133_311+134insCAG XP_005263605.1:n.311+133_311+134insCAG
XM_024451299.1:c.311+133_311+134insCAG XP_024307067.1:n.311+133_311+134insCAG
NM_014874.4:c.311+133_311+134insCAG MANE Select NP_055689.1:n.311+133_311+134insCAG
NM_001127660.2:c.311+133_311+134insCAG NP_001121132.1:n.311+133_311+134insCAG