Canonical Allele Identifier: CA252166
Gene: MFN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2280
dbSNP Id: rs119103267
gnomAD v2: 1-12069698-C-T
gnomAD v3: 1-12009641-C-T
gnomAD v4: 1-12009641-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.12009641C>T , CM000663.2:g.12009641C>T GRCh38
NC_000001.10:g.12069698C>T , CM000663.1:g.12069698C>T GRCh37
NC_000001.9:g.11992285C>T NCBI36
NG_007945.1:g.34461C>T , LRG_255:g.34461C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000235329.10:c.2119C>T MANE Select ENSP00000235329.5:p.Arg707Trp
ENST00000674548.1:c.2119C>T ENSP00000502185.1:p.Arg707Trp
ENST00000674658.1:c.1774C>T ENSP00000502334.1:p.Arg592Trp
ENST00000674817.1:c.2119C>T ENSP00000502151.1:p.Arg707Trp
ENST00000674910.1:c.2119C>T ENSP00000501716.1:p.Arg707Trp
ENST00000675043.1:n.87C>T
ENST00000675053.1:c.2119C>T ENSP00000501646.1:p.Arg707Trp
ENST00000675113.1:c.2119C>T ENSP00000502623.1:p.Arg707Trp
ENST00000675231.1:c.2119C>T ENSP00000502404.1:p.Arg707Trp
ENST00000675298.1:c.2119C>T ENSP00000501839.1:p.Arg707Trp
ENST00000675404.1:n.2354C>T
ENST00000675483.1:n.2247C>T
ENST00000675512.1:c.*2121C>T ENSP00000502630.1:n.*2121C>T
ENST00000675528.1:n.1610C>T
ENST00000675817.1:c.2251C>T ENSP00000502422.1:p.Arg751Trp
ENST00000675872.1:n.2479C>T
ENST00000675919.1:c.2119C>T ENSP00000501776.1:p.Arg707Trp
ENST00000675959.1:n.2625C>T
ENST00000675987.1:c.*92C>T ENSP00000502145.1:n.*92C>T
ENST00000676293.1:c.2119C>T ENSP00000502362.1:p.Arg707Trp
ENST00000676295.1:n.532C>T
ENST00000676426.1:c.*1119C>T ENSP00000502359.1:n.*1119C>T
ENST00000235329.9:c.2119C>T ENSP00000235329.5:p.Arg707Trp
ENST00000444836.5:c.2119C>T ENSP00000416338.1:p.Arg707Trp
NM_001127660.1:c.2119C>T NP_001121132.1:p.Arg707Trp
NM_014874.3:c.2119C>T , LRG_255t1:c.2119C>T NP_055689.1:p.Arg707Trp
XM_005263543.2:c.2119C>T XP_005263600.1:p.Arg707Trp
XM_005263545.2:c.2119C>T XP_005263602.1:p.Arg707Trp
XM_005263547.2:c.2119C>T XP_005263604.1:p.Arg707Trp
XM_005263548.2:c.2119C>T XP_005263605.1:p.Arg707Trp
XM_005263543.3:c.2119C>T XP_005263600.1:p.Arg707Trp
XM_005263545.3:c.2119C>T XP_005263602.1:p.Arg707Trp
XM_005263547.3:c.2119C>T XP_005263604.1:p.Arg707Trp
XM_005263548.3:c.2119C>T XP_005263605.1:p.Arg707Trp
XM_024451299.1:c.2119C>T XP_024307067.1:p.Arg707Trp
NM_014874.4:c.2119C>T MANE Select NP_055689.1:p.Arg707Trp
NM_001127660.2:c.2119C>T NP_001121132.1:p.Arg707Trp