Canonical Allele Identifier: CA1153920592

Gene: MFN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12002076_12002085delinsCCCTGCACAT , CM000663.2:g.12002076_12002085delinsCCCTGCACAT	GRCh38
NC_000001.10:g.12062133_12062142delinsCCCTGCACAT , CM000663.1:g.12062133_12062142delinsCCCTGCACAT	GRCh37
NC_000001.9:g.11984720_11984729delinsCCCTGCACAT	NCBI36
NG_007945.1:g.26896_26905delinsCCCTGCACAT , LRG_255:g.26896_26905delinsCCCTGCACAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.1133_1142delinsCCCTGCACAT MANE Select	ENSP00000235329.5:p.Ser378=
ENST00000674548.1:c.1133_1142delinsCCCTGCACAT	ENSP00000502185.1:p.Ser378=
ENST00000674658.1:c.788_797delinsCCCTGCACAT	ENSP00000502334.1:p.Ser263=
ENST00000674817.1:c.1133_1142delinsCCCTGCACAT	ENSP00000502151.1:p.Ser378=
ENST00000674910.1:c.1133_1142delinsCCCTGCACAT	ENSP00000501716.1:p.Ser378=
ENST00000675053.1:c.1133_1142delinsCCCTGCACAT	ENSP00000501646.1:p.Ser378=
ENST00000675113.1:c.1133_1142delinsCCCTGCACAT	ENSP00000502623.1:p.Ser378=
ENST00000675194.1:n.1558_1567delinsCCCTGCACAT
ENST00000675231.1:c.1133_1142delinsCCCTGCACAT	ENSP00000502404.1:p.Ser378=
ENST00000675298.1:c.1133_1142delinsCCCTGCACAT	ENSP00000501839.1:p.Ser378=
ENST00000675404.1:n.1368_1377delinsCCCTGCACAT
ENST00000675483.1:n.1261_1270delinsCCCTGCACAT
ENST00000675512.1:c.*1135_*1144delinsCCCTGCACAT	ENSP00000502630.1:n.*1135_*1144delinsCCCTGCACAT
ENST00000675528.1:n.624_633delinsCCCTGCACAT
ENST00000675817.1:c.1133_1142delinsCCCTGCACAT	ENSP00000502422.1:p.Ser378=
ENST00000675872.1:n.1493_1502delinsCCCTGCACAT
ENST00000675919.1:c.1133_1142delinsCCCTGCACAT	ENSP00000501776.1:p.Ser378=
ENST00000675959.1:n.1639_1648delinsCCCTGCACAT
ENST00000675987.1:c.1133_1142delinsCCCTGCACAT	ENSP00000502145.1:p.Ser378=
ENST00000676293.1:c.1133_1142delinsCCCTGCACAT	ENSP00000502362.1:p.Ser378=
ENST00000676426.1:c.*133_*142delinsCCCTGCACAT	ENSP00000502359.1:n.*133_*142delinsCCCTGCACAT
ENST00000235329.9:c.1133_1142delinsCCCTGCACAT	ENSP00000235329.5:p.Ser378=
ENST00000444836.5:c.1133_1142delinsCCCTGCACAT	ENSP00000416338.1:p.Ser378=
NM_001127660.1:c.1133_1142delinsCCCTGCACAT	NP_001121132.1:p.Ser378=
NM_014874.3:c.1133_1142delinsCCCTGCACAT , LRG_255t1:c.1133_1142delinsCCCTGCACAT	NP_055689.1:p.Ser378=
XM_005263543.2:c.1133_1142delinsCCCTGCACAT	XP_005263600.1:p.Ser378=
XM_005263545.2:c.1133_1142delinsCCCTGCACAT	XP_005263602.1:p.Ser378=
XM_005263547.2:c.1133_1142delinsCCCTGCACAT	XP_005263604.1:p.Ser378=
XM_005263548.2:c.1133_1142delinsCCCTGCACAT	XP_005263605.1:p.Ser378=
XM_005263543.3:c.1133_1142delinsCCCTGCACAT	XP_005263600.1:p.Ser378=
XM_005263545.3:c.1133_1142delinsCCCTGCACAT	XP_005263602.1:p.Ser378=
XM_005263547.3:c.1133_1142delinsCCCTGCACAT	XP_005263604.1:p.Ser378=
XM_005263548.3:c.1133_1142delinsCCCTGCACAT	XP_005263605.1:p.Ser378=
XM_024451299.1:c.1133_1142delinsCCCTGCACAT	XP_024307067.1:p.Ser378=
NM_014874.4:c.1133_1142delinsCCCTGCACAT MANE Select	NP_055689.1:p.Ser378=
NM_001127660.2:c.1133_1142delinsCCCTGCACAT	NP_001121132.1:p.Ser378=