Canonical Allele Identifier: CA2742487745
Gene: MFN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11992813_11992814insAG , CM000663.2:g.11992813_11992814insAG GRCh38
NC_000001.10:g.12052870_12052871insAG , CM000663.1:g.12052870_12052871insAG GRCh37
NC_000001.9:g.11975457_11975458insAG NCBI36
NG_007945.1:g.17633_17634insAG , LRG_255:g.17633_17634insAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000235329.10:c.311+123_311+124insAG MANE Select ENSP00000235329.5:n.311+123_311+124insAG
ENST00000674548.1:c.311+123_311+124insAG ENSP00000502185.1:n.311+123_311+124insAG
ENST00000674658.1:c.-34-3343_-34-3342insAG ENSP00000502334.1:n.-34-3343_-34-3342insAG
ENST00000674706.1:n.750+123_750+124insAG
ENST00000674817.1:c.311+123_311+124insAG ENSP00000502151.1:n.311+123_311+124insAG
ENST00000674910.1:c.311+123_311+124insAG ENSP00000501716.1:n.311+123_311+124insAG
ENST00000675053.1:c.311+123_311+124insAG ENSP00000501646.1:n.311+123_311+124insAG
ENST00000675113.1:c.311+123_311+124insAG ENSP00000502623.1:n.311+123_311+124insAG
ENST00000675194.1:n.736+123_736+124insAG
ENST00000675231.1:c.311+123_311+124insAG ENSP00000502404.1:n.311+123_311+124insAG
ENST00000675298.1:c.311+123_311+124insAG ENSP00000501839.1:n.311+123_311+124insAG
ENST00000675483.1:n.439+123_439+124insAG
ENST00000675512.1:c.*313+123_*313+124insAG ENSP00000502630.1:n.*313+123_*313+124insAG
ENST00000675817.1:c.311+123_311+124insAG ENSP00000502422.1:n.311+123_311+124insAG
ENST00000675872.1:n.562+123_562+124insAG
ENST00000675919.1:c.311+123_311+124insAG ENSP00000501776.1:n.311+123_311+124insAG
ENST00000675959.1:n.708+123_708+124insAG
ENST00000675987.1:c.311+123_311+124insAG ENSP00000502145.1:n.311+123_311+124insAG
ENST00000676293.1:c.311+123_311+124insAG ENSP00000502362.1:n.311+123_311+124insAG
ENST00000676426.1:c.311+123_311+124insAG ENSP00000502359.1:n.311+123_311+124insAG
ENST00000235329.9:c.311+123_311+124insAG ENSP00000235329.5:n.311+123_311+124insAG
ENST00000444836.5:c.311+123_311+124insAG ENSP00000416338.1:n.311+123_311+124insAG
NM_001127660.1:c.311+123_311+124insAG NP_001121132.1:n.311+123_311+124insAG
NM_014874.3:c.311+123_311+124insAG , LRG_255t1:c.311+123_311+124insAG NP_055689.1:n.311+123_311+124insAG
XM_005263543.2:c.311+123_311+124insAG XP_005263600.1:n.311+123_311+124insAG
XM_005263545.2:c.311+123_311+124insAG XP_005263602.1:n.311+123_311+124insAG
XM_005263547.2:c.311+123_311+124insAG XP_005263604.1:n.311+123_311+124insAG
XM_005263548.2:c.311+123_311+124insAG XP_005263605.1:n.311+123_311+124insAG
XM_005263543.3:c.311+123_311+124insAG XP_005263600.1:n.311+123_311+124insAG
XM_005263545.3:c.311+123_311+124insAG XP_005263602.1:n.311+123_311+124insAG
XM_005263547.3:c.311+123_311+124insAG XP_005263604.1:n.311+123_311+124insAG
XM_005263548.3:c.311+123_311+124insAG XP_005263605.1:n.311+123_311+124insAG
XM_024451299.1:c.311+123_311+124insAG XP_024307067.1:n.311+123_311+124insAG
NM_014874.4:c.311+123_311+124insAG MANE Select NP_055689.1:n.311+123_311+124insAG
NM_001127660.2:c.311+123_311+124insAG NP_001121132.1:n.311+123_311+124insAG