Canonical Allele Identifier: CA2573130494

Gene: MFN2

Linked Data

• ClinVar Variation Id: 1373259
• ClinVar RCV Id: RCV001880706
• dbSNP Id: rs2100832738

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11999069_11999070delinsTT , CM000663.2:g.11999069_11999070delinsTT	GRCh38
NC_000001.10:g.12059126_12059127delinsTT , CM000663.1:g.12059126_12059127delinsTT	GRCh37
NC_000001.9:g.11981713_11981714delinsTT	NCBI36
NG_007945.1:g.23889_23890delinsTT , LRG_255:g.23889_23890delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000235329.10:c.790_791delinsTT MANE Select	ENSP00000235329.5:p.Ala264Phe
ENST00000674548.1:c.790_791delinsTT	ENSP00000502185.1:p.Ala264Phe
ENST00000674658.1:c.445_446delinsTT	ENSP00000502334.1:p.Ala149Phe
ENST00000674706.1:n.1229_1230delinsTT
ENST00000674817.1:c.790_791delinsTT	ENSP00000502151.1:p.Ala264Phe
ENST00000674910.1:c.790_791delinsTT	ENSP00000501716.1:p.Ala264Phe
ENST00000675053.1:c.790_791delinsTT	ENSP00000501646.1:p.Ala264Phe
ENST00000675113.1:c.790_791delinsTT	ENSP00000502623.1:p.Ala264Phe
ENST00000675194.1:n.1215_1216delinsTT
ENST00000675231.1:c.790_791delinsTT	ENSP00000502404.1:p.Ala264Phe
ENST00000675298.1:c.790_791delinsTT	ENSP00000501839.1:p.Ala264Phe
ENST00000675483.1:n.918_919delinsTT
ENST00000675512.1:c.*792_*793delinsTT	ENSP00000502630.1:n.*792_*793delinsTT
ENST00000675528.1:n.281_282delinsTT
ENST00000675817.1:c.790_791delinsTT	ENSP00000502422.1:p.Ala264Phe
ENST00000675872.1:n.1150_1151delinsTT
ENST00000675919.1:c.790_791delinsTT	ENSP00000501776.1:p.Ala264Phe
ENST00000675959.1:n.1296_1297delinsTT
ENST00000675987.1:c.790_791delinsTT	ENSP00000502145.1:p.Ala264Phe
ENST00000676293.1:c.790_791delinsTT	ENSP00000502362.1:p.Ala264Phe
ENST00000676426.1:c.599+1648_599+1649delinsTT	ENSP00000502359.1:n.599+1648_599+1649delinsTT
ENST00000235329.9:c.790_791delinsTT	ENSP00000235329.5:p.Ala264Phe
ENST00000444836.5:c.790_791delinsTT	ENSP00000416338.1:p.Ala264Phe
NM_001127660.1:c.790_791delinsTT	NP_001121132.1:p.Ala264Phe
NM_014874.3:c.790_791delinsTT , LRG_255t1:c.790_791delinsTT	NP_055689.1:p.Ala264Phe
XM_005263543.2:c.790_791delinsTT	XP_005263600.1:p.Ala264Phe
XM_005263545.2:c.790_791delinsTT	XP_005263602.1:p.Ala264Phe
XM_005263547.2:c.790_791delinsTT	XP_005263604.1:p.Ala264Phe
XM_005263548.2:c.790_791delinsTT	XP_005263605.1:p.Ala264Phe
XM_005263543.3:c.790_791delinsTT	XP_005263600.1:p.Ala264Phe
XM_005263545.3:c.790_791delinsTT	XP_005263602.1:p.Ala264Phe
XM_005263547.3:c.790_791delinsTT	XP_005263604.1:p.Ala264Phe
XM_005263548.3:c.790_791delinsTT	XP_005263605.1:p.Ala264Phe
XM_024451299.1:c.790_791delinsTT	XP_024307067.1:p.Ala264Phe
NM_014874.4:c.790_791delinsTT MANE Select	NP_055689.1:p.Ala264Phe
NM_001127660.2:c.790_791delinsTT	NP_001121132.1:p.Ala264Phe