Canonical Allele Identifier: CA2586966123

Gene: MFN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12009668_12009670dup , CM000663.2:g.12009668_12009670dup	GRCh38
NC_000001.10:g.12069725_12069727dup , CM000663.1:g.12069725_12069727dup	GRCh37
NC_000001.9:g.11992312_11992314dup	NCBI36
NG_007945.1:g.34488_34490dup , LRG_255:g.34488_34490dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000235329.10:c.2146_2148dup MANE Select	ENSP00000235329.5:p.Ala716_Met717insAla
ENST00000674548.1:c.2146_2148dup	ENSP00000502185.1:p.Ala716_Met717insAla
ENST00000674658.1:c.1801_1803dup	ENSP00000502334.1:p.Ala601_Met602insAla
ENST00000674817.1:c.2146_2148dup	ENSP00000502151.1:p.Ala716_Met717insAla
ENST00000674910.1:c.2146_2148dup	ENSP00000501716.1:p.Ala716_Met717insAla
ENST00000675043.1:n.114_116dup
ENST00000675053.1:c.2146_2148dup	ENSP00000501646.1:p.Ala716_Met717insAla
ENST00000675113.1:c.2146_2148dup	ENSP00000502623.1:p.Ala716_Met717insAla
ENST00000675231.1:c.2146_2148dup	ENSP00000502404.1:p.Ala716_Met717insAla
ENST00000675298.1:c.2146_2148dup	ENSP00000501839.1:p.Ala716_Met717insAla
ENST00000675404.1:n.2381_2383dup
ENST00000675483.1:n.2274_2276dup
ENST00000675512.1:c.*2148_*2150dup	ENSP00000502630.1:n.*2148_*2150dup
ENST00000675528.1:n.1637_1639dup
ENST00000675817.1:c.2278_2280dup	ENSP00000502422.1:p.Ala760_Met761insAla
ENST00000675872.1:n.2506_2508dup
ENST00000675919.1:c.2146_2148dup	ENSP00000501776.1:p.Ala716_Met717insAla
ENST00000675959.1:n.2652_2654dup
ENST00000675987.1:c.*119_*121dup	ENSP00000502145.1:n.*119_*121dup
ENST00000676293.1:c.2146_2148dup	ENSP00000502362.1:p.Ala716_Met717insAla
ENST00000676295.1:n.559_561dup
ENST00000676426.1:c.*1146_*1148dup	ENSP00000502359.1:n.*1146_*1148dup
ENST00000235329.9:c.2146_2148dup	ENSP00000235329.5:p.Ala716_Met717insAla
ENST00000444836.5:c.2146_2148dup	ENSP00000416338.1:p.Ala716_Met717insAla
NM_001127660.1:c.2146_2148dup	NP_001121132.1:p.Ala716_Met717insAla
NM_014874.3:c.2146_2148dup , LRG_255t1:c.2146_2148dup	NP_055689.1:p.Ala716_Met717insAla
XM_005263543.2:c.2146_2148dup	XP_005263600.1:p.Ala716_Met717insAla
XM_005263545.2:c.2146_2148dup	XP_005263602.1:p.Ala716_Met717insAla
XM_005263547.2:c.2146_2148dup	XP_005263604.1:p.Ala716_Met717insAla
XM_005263548.2:c.2146_2148dup	XP_005263605.1:p.Ala716_Met717insAla
XM_005263543.3:c.2146_2148dup	XP_005263600.1:p.Ala716_Met717insAla
XM_005263545.3:c.2146_2148dup	XP_005263602.1:p.Ala716_Met717insAla
XM_005263547.3:c.2146_2148dup	XP_005263604.1:p.Ala716_Met717insAla
XM_005263548.3:c.2146_2148dup	XP_005263605.1:p.Ala716_Met717insAla
XM_024451299.1:c.2146_2148dup	XP_024307067.1:p.Ala716_Met717insAla
NM_014874.4:c.2146_2148dup MANE Select	NP_055689.1:p.Ala716_Met717insAla
NM_001127660.2:c.2146_2148dup	NP_001121132.1:p.Ala716_Met717insAla