Canonical Allele Identifier: CA259899

Gene: MFN2

Linked Data

• ClinVar Variation Id: 30735
• ClinVar RCV Id: RCV000023713 ; RCV000789373
• dbSNP Id: rs111723244
• MyVariant Identifiers: chr1:g.12064672T>C (hg19) ; chr1:g.12004615T>C (hg38)
• PubMed: PMID:20530328

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12004615T>C , CM000663.2:g.12004615T>C	GRCh38
NC_000001.10:g.12064672T>C , CM000663.1:g.12064672T>C	GRCh37
NC_000001.9:g.11987259T>C	NCBI36
NG_007945.1:g.29435T>C , LRG_255:g.29435T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.1392+2T>C MANE Select	ENSP00000235329.5:n.1392+2T>C
ENST00000674548.1:c.1392+2T>C	ENSP00000502185.1:n.1392+2T>C
ENST00000674658.1:c.1047+2T>C	ENSP00000502334.1:n.1047+2T>C
ENST00000674817.1:c.1392+2T>C	ENSP00000502151.1:n.1392+2T>C
ENST00000674910.1:c.1392+2T>C	ENSP00000501716.1:n.1392+2T>C
ENST00000675053.1:c.1392+2T>C	ENSP00000501646.1:n.1392+2T>C
ENST00000675113.1:c.1392+2T>C	ENSP00000502623.1:n.1392+2T>C
ENST00000675231.1:c.1392+2T>C	ENSP00000502404.1:n.1392+2T>C
ENST00000675298.1:c.1392+2T>C	ENSP00000501839.1:n.1392+2T>C
ENST00000675404.1:n.1627+2T>C
ENST00000675483.1:n.1520+2T>C
ENST00000675512.1:c.*1394+2T>C	ENSP00000502630.1:n.*1394+2T>C
ENST00000675528.1:n.883+2T>C
ENST00000675817.1:c.1524+2T>C	ENSP00000502422.1:n.1524+2T>C
ENST00000675872.1:n.1752+2T>C
ENST00000675919.1:c.1392+2T>C	ENSP00000501776.1:n.1392+2T>C
ENST00000675959.1:n.1898+2T>C
ENST00000675987.1:c.1392+2T>C	ENSP00000502145.1:n.1392+2T>C
ENST00000676293.1:c.1392+2T>C	ENSP00000502362.1:n.1392+2T>C
ENST00000676426.1:c.*392+2T>C	ENSP00000502359.1:n.*392+2T>C
ENST00000235329.9:c.1392+2T>C	ENSP00000235329.5:n.1392+2T>C
ENST00000444836.5:c.1392+2T>C	ENSP00000416338.1:n.1392+2T>C
NM_001127660.1:c.1392+2T>C	NP_001121132.1:n.1392+2T>C
NM_014874.3:c.1392+2T>C , LRG_255t1:c.1392+2T>C	NP_055689.1:n.1392+2T>C
XM_005263543.2:c.1392+2T>C	XP_005263600.1:n.1392+2T>C
XM_005263545.2:c.1392+2T>C	XP_005263602.1:n.1392+2T>C
XM_005263547.2:c.1392+2T>C	XP_005263604.1:n.1392+2T>C
XM_005263548.2:c.1392+2T>C	XP_005263605.1:n.1392+2T>C
XM_005263543.3:c.1392+2T>C	XP_005263600.1:n.1392+2T>C
XM_005263545.3:c.1392+2T>C	XP_005263602.1:n.1392+2T>C
XM_005263547.3:c.1392+2T>C	XP_005263604.1:n.1392+2T>C
XM_005263548.3:c.1392+2T>C	XP_005263605.1:n.1392+2T>C
XM_024451299.1:c.1392+2T>C	XP_024307067.1:n.1392+2T>C
NM_014874.4:c.1392+2T>C MANE Select	NP_055689.1:n.1392+2T>C
NM_001127660.2:c.1392+2T>C	NP_001121132.1:n.1392+2T>C