Canonical Allele Identifier: CA115469

Gene: MFN2

Linked Data

• ClinVar Variation Id: 2278
• ClinVar RCV Id: RCV000002367 ; RCV000023711 ; RCV000198024 ; RCV000195560 ; RCV000857103 ; RCV000857104
• dbSNP Id: rs119103265
• MyVariant Identifiers: chr1:g.12062090C>T (hg19) ; chr1:g.12002033C>T (hg38)
• PubMed: PMID:16437557 ; PMID:16835246 ; PMID:20587496 ; PMID:21508331

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12002033C>T , CM000663.2:g.12002033C>T	GRCh38
NC_000001.10:g.12062090C>T , CM000663.1:g.12062090C>T	GRCh37
NC_000001.9:g.11984677C>T	NCBI36
NG_007945.1:g.26853C>T , LRG_255:g.26853C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.1090C>T MANE Select	ENSP00000235329.5:p.Arg364Trp
ENST00000674548.1:c.1090C>T	ENSP00000502185.1:p.Arg364Trp
ENST00000674658.1:c.745C>T	ENSP00000502334.1:p.Arg249Trp
ENST00000674817.1:c.1090C>T	ENSP00000502151.1:p.Arg364Trp
ENST00000674910.1:c.1090C>T	ENSP00000501716.1:p.Arg364Trp
ENST00000675053.1:c.1090C>T	ENSP00000501646.1:p.Arg364Trp
ENST00000675113.1:c.1090C>T	ENSP00000502623.1:p.Arg364Trp
ENST00000675194.1:n.1515C>T
ENST00000675231.1:c.1090C>T	ENSP00000502404.1:p.Arg364Trp
ENST00000675298.1:c.1090C>T	ENSP00000501839.1:p.Arg364Trp
ENST00000675404.1:n.1325C>T
ENST00000675483.1:n.1218C>T
ENST00000675512.1:c.*1092C>T	ENSP00000502630.1:n.*1092C>T
ENST00000675528.1:n.581C>T
ENST00000675817.1:c.1090C>T	ENSP00000502422.1:p.Arg364Trp
ENST00000675872.1:n.1450C>T
ENST00000675919.1:c.1090C>T	ENSP00000501776.1:p.Arg364Trp
ENST00000675959.1:n.1596C>T
ENST00000675987.1:c.1090C>T	ENSP00000502145.1:p.Arg364Trp
ENST00000676293.1:c.1090C>T	ENSP00000502362.1:p.Arg364Trp
ENST00000676426.1:c.*90C>T	ENSP00000502359.1:n.*90C>T
ENST00000235329.9:c.1090C>T	ENSP00000235329.5:p.Arg364Trp
ENST00000444836.5:c.1090C>T	ENSP00000416338.1:p.Arg364Trp
NM_001127660.1:c.1090C>T	NP_001121132.1:p.Arg364Trp
NM_014874.3:c.1090C>T , LRG_255t1:c.1090C>T	NP_055689.1:p.Arg364Trp
XM_005263543.2:c.1090C>T	XP_005263600.1:p.Arg364Trp
XM_005263545.2:c.1090C>T	XP_005263602.1:p.Arg364Trp
XM_005263547.2:c.1090C>T	XP_005263604.1:p.Arg364Trp
XM_005263548.2:c.1090C>T	XP_005263605.1:p.Arg364Trp
XM_005263543.3:c.1090C>T	XP_005263600.1:p.Arg364Trp
XM_005263545.3:c.1090C>T	XP_005263602.1:p.Arg364Trp
XM_005263547.3:c.1090C>T	XP_005263604.1:p.Arg364Trp
XM_005263548.3:c.1090C>T	XP_005263605.1:p.Arg364Trp
XM_024451299.1:c.1090C>T	XP_024307067.1:p.Arg364Trp
NM_014874.4:c.1090C>T MANE Select	NP_055689.1:p.Arg364Trp
NM_001127660.2:c.1090C>T	NP_001121132.1:p.Arg364Trp