Canonical Allele Identifier: CA18038726

Gene: MFN2

Linked Data

• ClinVar Variation Id: 949776
• ClinVar RCV Id: RCV001221318 ; RCV002269347 ; RCV002429939
• dbSNP Id: rs372451582
• gnomAD v2: 1-12052684-C-G
• gnomAD v4: 1-11992627-C-G
• MyVariant Identifiers: chr1:g.12052684C>G (hg19) ; chr1:g.11992627C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11992627C>G , CM000663.2:g.11992627C>G	GRCh38
NC_000001.10:g.12052684C>G , CM000663.1:g.12052684C>G	GRCh37
NC_000001.9:g.11975271C>G	NCBI36
NG_007945.1:g.17447C>G , LRG_255:g.17447C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.248C>G MANE Select	ENSP00000235329.5:p.Ser83Cys
ENST00000412236.2:c.248C>G	ENSP00000412023.1:p.Ser83Cys
ENST00000674548.1:c.248C>G	ENSP00000502185.1:p.Ser83Cys
ENST00000674658.1:c.-34-3529C>G	ENSP00000502334.1:n.-34-3529C>G
ENST00000674706.1:n.687C>G
ENST00000674817.1:c.248C>G	ENSP00000502151.1:p.Ser83Cys
ENST00000674910.1:c.248C>G	ENSP00000501716.1:p.Ser83Cys
ENST00000675053.1:c.248C>G	ENSP00000501646.1:p.Ser83Cys
ENST00000675113.1:c.248C>G	ENSP00000502623.1:p.Ser83Cys
ENST00000675194.1:n.673C>G
ENST00000675231.1:c.248C>G	ENSP00000502404.1:p.Ser83Cys
ENST00000675298.1:c.248C>G	ENSP00000501839.1:p.Ser83Cys
ENST00000675483.1:n.376C>G
ENST00000675512.1:c.*250C>G	ENSP00000502630.1:n.*250C>G
ENST00000675530.1:c.248C>G	ENSP00000501972.1:p.Ser83Cys
ENST00000675817.1:c.248C>G	ENSP00000502422.1:p.Ser83Cys
ENST00000675872.1:n.499C>G
ENST00000675919.1:c.248C>G	ENSP00000501776.1:p.Ser83Cys
ENST00000675959.1:n.645C>G
ENST00000675987.1:c.248C>G	ENSP00000502145.1:p.Ser83Cys
ENST00000676293.1:c.248C>G	ENSP00000502362.1:p.Ser83Cys
ENST00000676369.1:c.248C>G	ENSP00000502005.1:p.Ser83Cys
ENST00000676426.1:c.248C>G	ENSP00000502359.1:p.Ser83Cys
ENST00000235329.9:c.248C>G	ENSP00000235329.5:p.Ser83Cys
ENST00000412236.1:c.248C>G	ENSP00000412023.1:p.Ser83Cys
ENST00000444836.5:c.248C>G	ENSP00000416338.1:p.Ser83Cys
ENST00000497302.1:n.632C>G
NM_001127660.1:c.248C>G	NP_001121132.1:p.Ser83Cys
NM_014874.3:c.248C>G , LRG_255t1:c.248C>G	NP_055689.1:p.Ser83Cys
XM_005263543.2:c.248C>G	XP_005263600.1:p.Ser83Cys
XM_005263545.2:c.248C>G	XP_005263602.1:p.Ser83Cys
XM_005263547.2:c.248C>G	XP_005263604.1:p.Ser83Cys
XM_005263548.2:c.248C>G	XP_005263605.1:p.Ser83Cys
XM_005263543.3:c.248C>G	XP_005263600.1:p.Ser83Cys
XM_005263545.3:c.248C>G	XP_005263602.1:p.Ser83Cys
XM_005263547.3:c.248C>G	XP_005263604.1:p.Ser83Cys
XM_005263548.3:c.248C>G	XP_005263605.1:p.Ser83Cys
XM_024451299.1:c.248C>G	XP_024307067.1:p.Ser83Cys
NM_014874.4:c.248C>G MANE Select	NP_055689.1:p.Ser83Cys
NM_001127660.2:c.248C>G	NP_001121132.1:p.Ser83Cys