Canonical Allele Identifier: CA2742486848
Gene: MFN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11982241_11982242insACAG , CM000663.2:g.11982241_11982242insACAG GRCh38
NC_000001.10:g.12042298_12042299insACAG , CM000663.1:g.12042298_12042299insACAG GRCh37
NC_000001.9:g.11964885_11964886insACAG NCBI36
NG_007945.1:g.7061_7062insACAG , LRG_255:g.7061_7062insACAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000235329.10:c.-5+127_-5+128insACAG MANE Select ENSP00000235329.5:n.-5+127_-5+128insACAG
ENST00000412236.2:c.-73+127_-73+128insACAG ENSP00000412023.1:n.-73+127_-73+128insACAG
ENST00000674548.1:c.-95+1757_-95+1758insACAG ENSP00000502185.1:n.-95+1757_-95+1758insACAG
ENST00000674658.1:c.-103+127_-103+128insACAG ENSP00000502334.1:n.-103+127_-103+128insACAG
ENST00000674706.1:n.367+127_367+128insACAG
ENST00000674817.1:c.-5+1757_-5+1758insACAG ENSP00000502151.1:n.-5+1757_-5+1758insACAG
ENST00000674910.1:c.-127+1757_-127+1758insACAG ENSP00000501716.1:n.-127+1757_-127+1758insACAG
ENST00000675053.1:c.-5+127_-5+128insACAG ENSP00000501646.1:n.-5+127_-5+128insACAG
ENST00000675113.1:c.-67+127_-67+128insACAG ENSP00000502623.1:n.-67+127_-67+128insACAG
ENST00000675194.1:n.421+127_421+128insACAG
ENST00000675231.1:c.-73+127_-73+128insACAG ENSP00000502404.1:n.-73+127_-73+128insACAG
ENST00000675298.1:c.-5+127_-5+128insACAG ENSP00000501839.1:n.-5+127_-5+128insACAG
ENST00000675512.1:c.-5+127_-5+128insACAG ENSP00000502630.1:n.-5+127_-5+128insACAG
ENST00000675530.1:c.-5+127_-5+128insACAG ENSP00000501972.1:n.-5+127_-5+128insACAG
ENST00000675781.1:c.-5+127_-5+128insACAG ENSP00000501947.1:n.-5+127_-5+128insACAG
ENST00000675817.1:c.-5+127_-5+128insACAG ENSP00000502422.1:n.-5+127_-5+128insACAG
ENST00000675872.1:n.247+1757_247+1758insACAG
ENST00000675919.1:c.-95+127_-95+128insACAG ENSP00000501776.1:n.-95+127_-95+128insACAG
ENST00000675959.1:n.393+127_393+128insACAG
ENST00000675987.1:c.-5+127_-5+128insACAG ENSP00000502145.1:n.-5+127_-5+128insACAG
ENST00000676293.1:c.-127+127_-127+128insACAG ENSP00000502362.1:n.-127+127_-127+128insACAG
ENST00000676369.1:c.-73+127_-73+128insACAG ENSP00000502005.1:n.-73+127_-73+128insACAG
ENST00000676426.1:c.-5+127_-5+128insACAG ENSP00000502359.1:n.-5+127_-5+128insACAG
ENST00000235329.9:c.-5+127_-5+128insACAG ENSP00000235329.5:n.-5+127_-5+128insACAG
ENST00000412236.1:c.-73+127_-73+128insACAG ENSP00000412023.1:n.-73+127_-73+128insACAG
ENST00000444836.5:c.-5+1757_-5+1758insACAG ENSP00000416338.1:n.-5+1757_-5+1758insACAG
ENST00000484391.5:n.115+1757_115+1758insACAG
ENST00000490079.5:n.375+127_375+128insACAG
ENST00000497302.1:n.195+127_195+128insACAG
NM_001127660.1:c.-5+1757_-5+1758insACAG NP_001121132.1:n.-5+1757_-5+1758insACAG
NM_014874.3:c.-5+127_-5+128insACAG , LRG_255t1:c.-5+127_-5+128insACAG NP_055689.1:n.-5+127_-5+128insACAG
XM_005263543.2:c.-73+127_-73+128insACAG XP_005263600.1:n.-73+127_-73+128insACAG
XM_005263545.2:c.-5+127_-5+128insACAG XP_005263602.1:n.-5+127_-5+128insACAG
XM_005263547.2:c.-5+127_-5+128insACAG XP_005263604.1:n.-5+127_-5+128insACAG
XM_005263548.2:c.-73+127_-73+128insACAG XP_005263605.1:n.-73+127_-73+128insACAG
XM_005263543.3:c.-73+127_-73+128insACAG XP_005263600.1:n.-73+127_-73+128insACAG
XM_005263545.3:c.-5+127_-5+128insACAG XP_005263602.1:n.-5+127_-5+128insACAG
XM_005263547.3:c.-5+127_-5+128insACAG XP_005263604.1:n.-5+127_-5+128insACAG
XM_005263548.3:c.-73+127_-73+128insACAG XP_005263605.1:n.-73+127_-73+128insACAG
XM_024451299.1:c.-73+127_-73+128insACAG XP_024307067.1:n.-73+127_-73+128insACAG
NM_014874.4:c.-5+127_-5+128insACAG MANE Select NP_055689.1:n.-5+127_-5+128insACAG
NM_001127660.2:c.-5+1757_-5+1758insACAG NP_001121132.1:n.-5+1757_-5+1758insACAG