Canonical Allele Identifier: CA16616967

Gene: MFN2

Linked Data

• ClinVar Variation Id: 420586
• ClinVar RCV Id: RCV000486011 ; RCV000698484 ; RCV001027466
• dbSNP Id: rs1064794571
• MyVariant Identifiers: chr1:g.12071578G>A (hg19) ; chr1:g.12011521G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12011521G>A , CM000663.2:g.12011521G>A	GRCh38
NC_000001.10:g.12071578G>A , CM000663.1:g.12071578G>A	GRCh37
NC_000001.9:g.11994165G>A	NCBI36
NG_007945.1:g.36341G>A , LRG_255:g.36341G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.2230G>A MANE Select	ENSP00000235329.5:p.Glu744Lys
ENST00000674548.1:c.2230G>A	ENSP00000502185.1:p.Glu744Lys
ENST00000674658.1:c.1885G>A	ENSP00000502334.1:p.Glu629Lys
ENST00000674817.1:c.2230G>A	ENSP00000502151.1:p.Glu744Lys
ENST00000674910.1:c.2230G>A	ENSP00000501716.1:p.Glu744Lys
ENST00000675043.1:n.198G>A
ENST00000675053.1:c.2230G>A	ENSP00000501646.1:p.Glu744Lys
ENST00000675113.1:c.2230G>A	ENSP00000502623.1:p.Glu744Lys
ENST00000675231.1:c.2230G>A	ENSP00000502404.1:p.Glu744Lys
ENST00000675298.1:c.2204+1795G>A	ENSP00000501839.1:n.2204+1795G>A
ENST00000675404.1:n.2465G>A
ENST00000675483.1:n.2358G>A
ENST00000675512.1:c.*2232G>A	ENSP00000502630.1:n.*2232G>A
ENST00000675528.1:n.1721G>A
ENST00000675817.1:c.2362G>A	ENSP00000502422.1:p.Glu788Lys
ENST00000675872.1:n.2590G>A
ENST00000675919.1:c.2230G>A	ENSP00000501776.1:p.Glu744Lys
ENST00000675959.1:n.2736G>A
ENST00000675987.1:c.*203G>A	ENSP00000502145.1:n.*203G>A
ENST00000676293.1:c.2230G>A	ENSP00000502362.1:p.Glu744Lys
ENST00000676295.1:n.643G>A
ENST00000676426.1:c.*1230G>A	ENSP00000502359.1:n.*1230G>A
ENST00000235329.9:c.2230G>A	ENSP00000235329.5:p.Glu744Lys
ENST00000444836.5:c.2230G>A	ENSP00000416338.1:p.Glu744Lys
NM_001127660.1:c.2230G>A	NP_001121132.1:p.Glu744Lys
NM_014874.3:c.2230G>A , LRG_255t1:c.2230G>A	NP_055689.1:p.Glu744Lys
XM_005263543.2:c.2230G>A	XP_005263600.1:p.Glu744Lys
XM_005263545.2:c.2230G>A	XP_005263602.1:p.Glu744Lys
XM_005263547.2:c.2230G>A	XP_005263604.1:p.Glu744Lys
XM_005263548.2:c.2230G>A	XP_005263605.1:p.Glu744Lys
XM_005263543.3:c.2230G>A	XP_005263600.1:p.Glu744Lys
XM_005263545.3:c.2230G>A	XP_005263602.1:p.Glu744Lys
XM_005263547.3:c.2230G>A	XP_005263604.1:p.Glu744Lys
XM_005263548.3:c.2230G>A	XP_005263605.1:p.Glu744Lys
XM_024451299.1:c.2230G>A	XP_024307067.1:p.Glu744Lys
NM_014874.4:c.2230G>A MANE Select	NP_055689.1:p.Glu744Lys
NM_001127660.2:c.2230G>A	NP_001121132.1:p.Glu744Lys