Canonical Allele Identifier: CA1153916927

Gene: MFN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11999370_11999376delinsTTTCTGA , CM000663.2:g.11999370_11999376delinsTTTCTGA	GRCh38
NC_000001.10:g.12059427_12059433delinsTTTCTGA , CM000663.1:g.12059427_12059433delinsTTTCTGA	GRCh37
NC_000001.9:g.11982014_11982020delinsTTTCTGA	NCBI36
NG_007945.1:g.24190_24196delinsTTTCTGA , LRG_255:g.24190_24196delinsTTTCTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.816+275_816+281delinsTTTCTGA MANE Select	ENSP00000235329.5:n.816+275_816+281delinsTTTCTGA
ENST00000674548.1:c.816+275_816+281delinsTTTCTGA	ENSP00000502185.1:n.816+275_816+281delinsTTTCTGA
ENST00000674658.1:c.471+275_471+281delinsTTTCTGA	ENSP00000502334.1:n.471+275_471+281delinsTTTCTGA
ENST00000674706.1:n.1530_1536delinsTTTCTGA
ENST00000674817.1:c.816+275_816+281delinsTTTCTGA	ENSP00000502151.1:n.816+275_816+281delinsTTTCTGA
ENST00000674910.1:c.816+275_816+281delinsTTTCTGA	ENSP00000501716.1:n.816+275_816+281delinsTTTCTGA
ENST00000675053.1:c.816+275_816+281delinsTTTCTGA	ENSP00000501646.1:n.816+275_816+281delinsTTTCTGA
ENST00000675113.1:c.816+275_816+281delinsTTTCTGA	ENSP00000502623.1:n.816+275_816+281delinsTTTCTGA
ENST00000675194.1:n.1241+275_1241+281delinsTTTCTGA
ENST00000675231.1:c.816+275_816+281delinsTTTCTGA	ENSP00000502404.1:n.816+275_816+281delinsTTTCTGA
ENST00000675298.1:c.816+275_816+281delinsTTTCTGA	ENSP00000501839.1:n.816+275_816+281delinsTTTCTGA
ENST00000675483.1:n.944+275_944+281delinsTTTCTGA
ENST00000675512.1:c.*818+275_*818+281delinsTTTCTGA	ENSP00000502630.1:n.*818+275_*818+281delinsTTTCTGA
ENST00000675528.1:n.307+275_307+281delinsTTTCTGA
ENST00000675817.1:c.816+275_816+281delinsTTTCTGA	ENSP00000502422.1:n.816+275_816+281delinsTTTCTGA
ENST00000675872.1:n.1176+275_1176+281delinsTTTCTGA
ENST00000675919.1:c.816+275_816+281delinsTTTCTGA	ENSP00000501776.1:n.816+275_816+281delinsTTTCTGA
ENST00000675959.1:n.1322+275_1322+281delinsTTTCTGA
ENST00000675987.1:c.816+275_816+281delinsTTTCTGA	ENSP00000502145.1:n.816+275_816+281delinsTTTCTGA
ENST00000676293.1:c.816+275_816+281delinsTTTCTGA	ENSP00000502362.1:n.816+275_816+281delinsTTTCTGA
ENST00000676426.1:c.599+1949_599+1955delinsTTTCTGA	ENSP00000502359.1:n.599+1949_599+1955delinsTTTCTGA
ENST00000235329.9:c.816+275_816+281delinsTTTCTGA	ENSP00000235329.5:n.816+275_816+281delinsTTTCTGA
ENST00000444836.5:c.816+275_816+281delinsTTTCTGA	ENSP00000416338.1:n.816+275_816+281delinsTTTCTGA
NM_001127660.1:c.816+275_816+281delinsTTTCTGA	NP_001121132.1:n.816+275_816+281delinsTTTCTGA
NM_014874.3:c.816+275_816+281delinsTTTCTGA , LRG_255t1:c.816+275_816+281delinsTTTCTGA	NP_055689.1:n.816+275_816+281delinsTTTCTGA
XM_005263543.2:c.816+275_816+281delinsTTTCTGA	XP_005263600.1:n.816+275_816+281delinsTTTCTGA
XM_005263545.2:c.816+275_816+281delinsTTTCTGA	XP_005263602.1:n.816+275_816+281delinsTTTCTGA
XM_005263547.2:c.816+275_816+281delinsTTTCTGA	XP_005263604.1:n.816+275_816+281delinsTTTCTGA
XM_005263548.2:c.816+275_816+281delinsTTTCTGA	XP_005263605.1:n.816+275_816+281delinsTTTCTGA
XM_005263543.3:c.816+275_816+281delinsTTTCTGA	XP_005263600.1:n.816+275_816+281delinsTTTCTGA
XM_005263545.3:c.816+275_816+281delinsTTTCTGA	XP_005263602.1:n.816+275_816+281delinsTTTCTGA
XM_005263547.3:c.816+275_816+281delinsTTTCTGA	XP_005263604.1:n.816+275_816+281delinsTTTCTGA
XM_005263548.3:c.816+275_816+281delinsTTTCTGA	XP_005263605.1:n.816+275_816+281delinsTTTCTGA
XM_024451299.1:c.816+275_816+281delinsTTTCTGA	XP_024307067.1:n.816+275_816+281delinsTTTCTGA
NM_014874.4:c.816+275_816+281delinsTTTCTGA MANE Select	NP_055689.1:n.816+275_816+281delinsTTTCTGA
NM_001127660.2:c.816+275_816+281delinsTTTCTGA	NP_001121132.1:n.816+275_816+281delinsTTTCTGA