Canonical Allele Identifier: CA2742487792
Gene: MFN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11992819_11992820insACA , CM000663.2:g.11992819_11992820insACA GRCh38
NC_000001.10:g.12052876_12052877insACA , CM000663.1:g.12052876_12052877insACA GRCh37
NC_000001.9:g.11975463_11975464insACA NCBI36
NG_007945.1:g.17639_17640insACA , LRG_255:g.17639_17640insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000235329.10:c.311+129_311+130insACA MANE Select ENSP00000235329.5:n.311+129_311+130insACA
ENST00000674548.1:c.311+129_311+130insACA ENSP00000502185.1:n.311+129_311+130insACA
ENST00000674658.1:c.-34-3337_-34-3336insACA ENSP00000502334.1:n.-34-3337_-34-3336insACA
ENST00000674706.1:n.750+129_750+130insACA
ENST00000674817.1:c.311+129_311+130insACA ENSP00000502151.1:n.311+129_311+130insACA
ENST00000674910.1:c.311+129_311+130insACA ENSP00000501716.1:n.311+129_311+130insACA
ENST00000675053.1:c.311+129_311+130insACA ENSP00000501646.1:n.311+129_311+130insACA
ENST00000675113.1:c.311+129_311+130insACA ENSP00000502623.1:n.311+129_311+130insACA
ENST00000675194.1:n.736+129_736+130insACA
ENST00000675231.1:c.311+129_311+130insACA ENSP00000502404.1:n.311+129_311+130insACA
ENST00000675298.1:c.311+129_311+130insACA ENSP00000501839.1:n.311+129_311+130insACA
ENST00000675483.1:n.439+129_439+130insACA
ENST00000675512.1:c.*313+129_*313+130insACA ENSP00000502630.1:n.*313+129_*313+130insACA
ENST00000675817.1:c.311+129_311+130insACA ENSP00000502422.1:n.311+129_311+130insACA
ENST00000675872.1:n.562+129_562+130insACA
ENST00000675919.1:c.311+129_311+130insACA ENSP00000501776.1:n.311+129_311+130insACA
ENST00000675959.1:n.708+129_708+130insACA
ENST00000675987.1:c.311+129_311+130insACA ENSP00000502145.1:n.311+129_311+130insACA
ENST00000676293.1:c.311+129_311+130insACA ENSP00000502362.1:n.311+129_311+130insACA
ENST00000676426.1:c.311+129_311+130insACA ENSP00000502359.1:n.311+129_311+130insACA
ENST00000235329.9:c.311+129_311+130insACA ENSP00000235329.5:n.311+129_311+130insACA
ENST00000444836.5:c.311+129_311+130insACA ENSP00000416338.1:n.311+129_311+130insACA
NM_001127660.1:c.311+129_311+130insACA NP_001121132.1:n.311+129_311+130insACA
NM_014874.3:c.311+129_311+130insACA , LRG_255t1:c.311+129_311+130insACA NP_055689.1:n.311+129_311+130insACA
XM_005263543.2:c.311+129_311+130insACA XP_005263600.1:n.311+129_311+130insACA
XM_005263545.2:c.311+129_311+130insACA XP_005263602.1:n.311+129_311+130insACA
XM_005263547.2:c.311+129_311+130insACA XP_005263604.1:n.311+129_311+130insACA
XM_005263548.2:c.311+129_311+130insACA XP_005263605.1:n.311+129_311+130insACA
XM_005263543.3:c.311+129_311+130insACA XP_005263600.1:n.311+129_311+130insACA
XM_005263545.3:c.311+129_311+130insACA XP_005263602.1:n.311+129_311+130insACA
XM_005263547.3:c.311+129_311+130insACA XP_005263604.1:n.311+129_311+130insACA
XM_005263548.3:c.311+129_311+130insACA XP_005263605.1:n.311+129_311+130insACA
XM_024451299.1:c.311+129_311+130insACA XP_024307067.1:n.311+129_311+130insACA
NM_014874.4:c.311+129_311+130insACA MANE Select NP_055689.1:n.311+129_311+130insACA
NM_001127660.2:c.311+129_311+130insACA NP_001121132.1:n.311+129_311+130insACA