Canonical Allele Identifier: CA2574216542

Gene: MFN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12001551_12001552dup , CM000663.2:g.12001551_12001552dup	GRCh38
NC_000001.10:g.12061608_12061609dup , CM000663.1:g.12061608_12061609dup	GRCh37
NC_000001.9:g.11984195_11984196dup	NCBI36
NG_007945.1:g.26371_26372dup , LRG_255:g.26371_26372dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.967_968dup MANE Select	ENSP00000235329.5:p.Gly324GlufsTer11
ENST00000674548.1:c.967_968dup	ENSP00000502185.1:p.Gly324GlufsTer11
ENST00000674658.1:c.622_623dup	ENSP00000502334.1:p.Gly209GlufsTer11
ENST00000674817.1:c.967_968dup	ENSP00000502151.1:p.Gly324GlufsTer11
ENST00000674910.1:c.967_968dup	ENSP00000501716.1:p.Gly324GlufsTer11
ENST00000675053.1:c.967_968dup	ENSP00000501646.1:p.Gly324GlufsTer11
ENST00000675113.1:c.967_968dup	ENSP00000502623.1:p.Gly324GlufsTer11
ENST00000675194.1:n.1392_1393dup
ENST00000675231.1:c.967_968dup	ENSP00000502404.1:p.Gly324GlufsTer11
ENST00000675298.1:c.967_968dup	ENSP00000501839.1:p.Gly324GlufsTer11
ENST00000675404.1:n.1202_1203dup
ENST00000675483.1:n.1095_1096dup
ENST00000675512.1:c.*969_*970dup	ENSP00000502630.1:n.*969_*970dup
ENST00000675528.1:n.458_459dup
ENST00000675817.1:c.967_968dup	ENSP00000502422.1:p.Gly324GlufsTer11
ENST00000675872.1:n.1327_1328dup
ENST00000675919.1:c.967_968dup	ENSP00000501776.1:p.Gly324GlufsTer11
ENST00000675959.1:n.1473_1474dup
ENST00000675987.1:c.967_968dup	ENSP00000502145.1:p.Gly324GlufsTer11
ENST00000676293.1:c.967_968dup	ENSP00000502362.1:p.Gly324GlufsTer11
ENST00000676426.1:c.750_751dup	ENSP00000502359.1:p.Glu251GlyfsTer10
ENST00000235329.9:c.967_968dup	ENSP00000235329.5:p.Gly324GlufsTer11
ENST00000444836.5:c.967_968dup	ENSP00000416338.1:p.Gly324GlufsTer11
NM_001127660.1:c.967_968dup	NP_001121132.1:p.Gly324GlufsTer11
NM_014874.3:c.967_968dup , LRG_255t1:c.967_968dup	NP_055689.1:p.Gly324GlufsTer11
XM_005263543.2:c.967_968dup	XP_005263600.1:p.Gly324GlufsTer11
XM_005263545.2:c.967_968dup	XP_005263602.1:p.Gly324GlufsTer11
XM_005263547.2:c.967_968dup	XP_005263604.1:p.Gly324GlufsTer11
XM_005263548.2:c.967_968dup	XP_005263605.1:p.Gly324GlufsTer11
XM_005263543.3:c.967_968dup	XP_005263600.1:p.Gly324GlufsTer11
XM_005263545.3:c.967_968dup	XP_005263602.1:p.Gly324GlufsTer11
XM_005263547.3:c.967_968dup	XP_005263604.1:p.Gly324GlufsTer11
XM_005263548.3:c.967_968dup	XP_005263605.1:p.Gly324GlufsTer11
XM_024451299.1:c.967_968dup	XP_024307067.1:p.Gly324GlufsTer11
NM_014874.4:c.967_968dup MANE Select	NP_055689.1:p.Gly324GlufsTer11
NM_001127660.2:c.967_968dup	NP_001121132.1:p.Gly324GlufsTer11