Canonical Allele Identifier: CA2742487775
Gene: MFN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11992816_11992817insAG , CM000663.2:g.11992816_11992817insAG GRCh38
NC_000001.10:g.12052873_12052874insAG , CM000663.1:g.12052873_12052874insAG GRCh37
NC_000001.9:g.11975460_11975461insAG NCBI36
NG_007945.1:g.17636_17637insAG , LRG_255:g.17636_17637insAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000235329.10:c.311+126_311+127insAG MANE Select ENSP00000235329.5:n.311+126_311+127insAG
ENST00000674548.1:c.311+126_311+127insAG ENSP00000502185.1:n.311+126_311+127insAG
ENST00000674658.1:c.-34-3340_-34-3339insAG ENSP00000502334.1:n.-34-3340_-34-3339insAG
ENST00000674706.1:n.750+126_750+127insAG
ENST00000674817.1:c.311+126_311+127insAG ENSP00000502151.1:n.311+126_311+127insAG
ENST00000674910.1:c.311+126_311+127insAG ENSP00000501716.1:n.311+126_311+127insAG
ENST00000675053.1:c.311+126_311+127insAG ENSP00000501646.1:n.311+126_311+127insAG
ENST00000675113.1:c.311+126_311+127insAG ENSP00000502623.1:n.311+126_311+127insAG
ENST00000675194.1:n.736+126_736+127insAG
ENST00000675231.1:c.311+126_311+127insAG ENSP00000502404.1:n.311+126_311+127insAG
ENST00000675298.1:c.311+126_311+127insAG ENSP00000501839.1:n.311+126_311+127insAG
ENST00000675483.1:n.439+126_439+127insAG
ENST00000675512.1:c.*313+126_*313+127insAG ENSP00000502630.1:n.*313+126_*313+127insAG
ENST00000675817.1:c.311+126_311+127insAG ENSP00000502422.1:n.311+126_311+127insAG
ENST00000675872.1:n.562+126_562+127insAG
ENST00000675919.1:c.311+126_311+127insAG ENSP00000501776.1:n.311+126_311+127insAG
ENST00000675959.1:n.708+126_708+127insAG
ENST00000675987.1:c.311+126_311+127insAG ENSP00000502145.1:n.311+126_311+127insAG
ENST00000676293.1:c.311+126_311+127insAG ENSP00000502362.1:n.311+126_311+127insAG
ENST00000676426.1:c.311+126_311+127insAG ENSP00000502359.1:n.311+126_311+127insAG
ENST00000235329.9:c.311+126_311+127insAG ENSP00000235329.5:n.311+126_311+127insAG
ENST00000444836.5:c.311+126_311+127insAG ENSP00000416338.1:n.311+126_311+127insAG
NM_001127660.1:c.311+126_311+127insAG NP_001121132.1:n.311+126_311+127insAG
NM_014874.3:c.311+126_311+127insAG , LRG_255t1:c.311+126_311+127insAG NP_055689.1:n.311+126_311+127insAG
XM_005263543.2:c.311+126_311+127insAG XP_005263600.1:n.311+126_311+127insAG
XM_005263545.2:c.311+126_311+127insAG XP_005263602.1:n.311+126_311+127insAG
XM_005263547.2:c.311+126_311+127insAG XP_005263604.1:n.311+126_311+127insAG
XM_005263548.2:c.311+126_311+127insAG XP_005263605.1:n.311+126_311+127insAG
XM_005263543.3:c.311+126_311+127insAG XP_005263600.1:n.311+126_311+127insAG
XM_005263545.3:c.311+126_311+127insAG XP_005263602.1:n.311+126_311+127insAG
XM_005263547.3:c.311+126_311+127insAG XP_005263604.1:n.311+126_311+127insAG
XM_005263548.3:c.311+126_311+127insAG XP_005263605.1:n.311+126_311+127insAG
XM_024451299.1:c.311+126_311+127insAG XP_024307067.1:n.311+126_311+127insAG
NM_014874.4:c.311+126_311+127insAG MANE Select NP_055689.1:n.311+126_311+127insAG
NM_001127660.2:c.311+126_311+127insAG NP_001121132.1:n.311+126_311+127insAG