Canonical Allele Identifier: CA998652356

Gene: MFN2

Linked Data

• dbSNP Id: rs1639070783
• gnomAD v3: 1-11999296-C-CA
• gnomAD v4: 1-11999296-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11999298dup , CM000663.2:g.11999298dup	GRCh38
NC_000001.10:g.12059355dup , CM000663.1:g.12059355dup	GRCh37
NC_000001.9:g.11981942dup	NCBI36
NG_007945.1:g.24118dup , LRG_255:g.24118dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.816+203dup MANE Select	ENSP00000235329.5:n.816+203dup
ENST00000674548.1:c.816+203dup	ENSP00000502185.1:n.816+203dup
ENST00000674658.1:c.471+203dup	ENSP00000502334.1:n.471+203dup
ENST00000674706.1:n.1458dup
ENST00000674817.1:c.816+203dup	ENSP00000502151.1:n.816+203dup
ENST00000674910.1:c.816+203dup	ENSP00000501716.1:n.816+203dup
ENST00000675053.1:c.816+203dup	ENSP00000501646.1:n.816+203dup
ENST00000675113.1:c.816+203dup	ENSP00000502623.1:n.816+203dup
ENST00000675194.1:n.1241+203dup
ENST00000675231.1:c.816+203dup	ENSP00000502404.1:n.816+203dup
ENST00000675298.1:c.816+203dup	ENSP00000501839.1:n.816+203dup
ENST00000675483.1:n.944+203dup
ENST00000675512.1:c.*818+203dup	ENSP00000502630.1:n.*818+203dup
ENST00000675528.1:n.307+203dup
ENST00000675817.1:c.816+203dup	ENSP00000502422.1:n.816+203dup
ENST00000675872.1:n.1176+203dup
ENST00000675919.1:c.816+203dup	ENSP00000501776.1:n.816+203dup
ENST00000675959.1:n.1322+203dup
ENST00000675987.1:c.816+203dup	ENSP00000502145.1:n.816+203dup
ENST00000676293.1:c.816+203dup	ENSP00000502362.1:n.816+203dup
ENST00000676426.1:c.599+1877dup	ENSP00000502359.1:n.599+1877dup
ENST00000235329.9:c.816+203dup	ENSP00000235329.5:n.816+203dup
ENST00000444836.5:c.816+203dup	ENSP00000416338.1:n.816+203dup
NM_001127660.1:c.816+203dup	NP_001121132.1:n.816+203dup
NM_014874.3:c.816+203dup , LRG_255t1:c.816+203dup	NP_055689.1:n.816+203dup
XM_005263543.2:c.816+203dup	XP_005263600.1:n.816+203dup
XM_005263545.2:c.816+203dup	XP_005263602.1:n.816+203dup
XM_005263547.2:c.816+203dup	XP_005263604.1:n.816+203dup
XM_005263548.2:c.816+203dup	XP_005263605.1:n.816+203dup
XM_005263543.3:c.816+203dup	XP_005263600.1:n.816+203dup
XM_005263545.3:c.816+203dup	XP_005263602.1:n.816+203dup
XM_005263547.3:c.816+203dup	XP_005263604.1:n.816+203dup
XM_005263548.3:c.816+203dup	XP_005263605.1:n.816+203dup
XM_024451299.1:c.816+203dup	XP_024307067.1:n.816+203dup
NM_014874.4:c.816+203dup MANE Select	NP_055689.1:n.816+203dup
NM_001127660.2:c.816+203dup	NP_001121132.1:n.816+203dup