Canonical Allele Identifier: CA325008

Gene: MFN2

Linked Data

• ClinVar Variation Id: 214653
• ClinVar RCV Id: RCV000464315 ; RCV000789405 ; RCV000767172 ; RCV001706178 ; RCV002390522 ; RCV004530168
• dbSNP Id: rs140234726
• ExAC: 1:12059085 G / A
• gnomAD v2: 1-12059085-G-A
• gnomAD v3: 1-11999028-G-A
• gnomAD v4: 1-11999028-G-A
• MyVariant Identifiers: chr1:g.12059085G>A (hg19) ; chr1:g.11999028G>A (hg38)
• PubMed: PMID:16714318 ; PMID:21258814 ; PMID:22492563 ; PMID:26752306 ; PMID:26930221 ; PMID:26968897

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11999028G>A , CM000663.2:g.11999028G>A	GRCh38
NC_000001.10:g.12059085G>A , CM000663.1:g.12059085G>A	GRCh37
NC_000001.9:g.11981672G>A	NCBI36
NG_007945.1:g.23848G>A , LRG_255:g.23848G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.749G>A MANE Select	ENSP00000235329.5:p.Arg250Gln
ENST00000674548.1:c.749G>A	ENSP00000502185.1:p.Arg250Gln
ENST00000674658.1:c.404G>A	ENSP00000502334.1:p.Arg135Gln
ENST00000674706.1:n.1188G>A
ENST00000674817.1:c.749G>A	ENSP00000502151.1:p.Arg250Gln
ENST00000674910.1:c.749G>A	ENSP00000501716.1:p.Arg250Gln
ENST00000675053.1:c.749G>A	ENSP00000501646.1:p.Arg250Gln
ENST00000675113.1:c.749G>A	ENSP00000502623.1:p.Arg250Gln
ENST00000675194.1:n.1174G>A
ENST00000675231.1:c.749G>A	ENSP00000502404.1:p.Arg250Gln
ENST00000675298.1:c.749G>A	ENSP00000501839.1:p.Arg250Gln
ENST00000675374.1:n.548G>A
ENST00000675483.1:n.877G>A
ENST00000675512.1:c.*751G>A	ENSP00000502630.1:n.*751G>A
ENST00000675528.1:n.240G>A
ENST00000675817.1:c.749G>A	ENSP00000502422.1:p.Arg250Gln
ENST00000675872.1:n.1109G>A
ENST00000675919.1:c.749G>A	ENSP00000501776.1:p.Arg250Gln
ENST00000675959.1:n.1255G>A
ENST00000675987.1:c.749G>A	ENSP00000502145.1:p.Arg250Gln
ENST00000676293.1:c.749G>A	ENSP00000502362.1:p.Arg250Gln
ENST00000676426.1:c.599+1607G>A	ENSP00000502359.1:n.599+1607G>A
ENST00000235329.9:c.749G>A	ENSP00000235329.5:p.Arg250Gln
ENST00000444836.5:c.749G>A	ENSP00000416338.1:p.Arg250Gln
NM_001127660.1:c.749G>A	NP_001121132.1:p.Arg250Gln
NM_014874.3:c.749G>A , LRG_255t1:c.749G>A	NP_055689.1:p.Arg250Gln
XM_005263543.2:c.749G>A	XP_005263600.1:p.Arg250Gln
XM_005263545.2:c.749G>A	XP_005263602.1:p.Arg250Gln
XM_005263547.2:c.749G>A	XP_005263604.1:p.Arg250Gln
XM_005263548.2:c.749G>A	XP_005263605.1:p.Arg250Gln
XM_005263543.3:c.749G>A	XP_005263600.1:p.Arg250Gln
XM_005263545.3:c.749G>A	XP_005263602.1:p.Arg250Gln
XM_005263547.3:c.749G>A	XP_005263604.1:p.Arg250Gln
XM_005263548.3:c.749G>A	XP_005263605.1:p.Arg250Gln
XM_024451299.1:c.749G>A	XP_024307067.1:p.Arg250Gln
NM_014874.4:c.749G>A MANE Select	NP_055689.1:p.Arg250Gln
NM_001127660.2:c.749G>A	NP_001121132.1:p.Arg250Gln