Canonical Allele Identifier: CA1141579598
Gene: MFN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11998787C= , CM000663.2:g.11998787C= GRCh38
NC_000001.10:g.12058844C= , CM000663.1:g.12058844C= GRCh37
NC_000001.9:g.11981431C= NCBI36
NG_007945.1:g.23607C= , LRG_255:g.23607C=

Transcript Alleles

HGVS Amino-acid Change
NM_014874.4:c.617C= MANE Select NP_055689.1:p.Thr206=
ENST00000235329.10:c.617C= MANE Select ENSP00000235329.5:p.Thr206=
NM_001127660.1:c.617C= NP_001121132.1:p.Thr206=
NM_001127660.2:c.617C= NP_001121132.1:p.Thr206=
NM_014874.3:c.617C= , LRG_255t1:c.617C= NP_055689.1:p.Thr206=
ENST00000235329.9:c.617C= ENSP00000235329.5:p.Thr206=
ENST00000444836.5:c.617C= ENSP00000416338.1:p.Thr206=
ENST00000674548.1:c.617C= ENSP00000502185.1:p.Thr206=
ENST00000674658.1:c.272C= ENSP00000502334.1:p.Thr91=
ENST00000674706.1:n.1056C=
ENST00000674817.1:c.617C= ENSP00000502151.1:p.Thr206=
ENST00000674910.1:c.617C= ENSP00000501716.1:p.Thr206=
ENST00000675053.1:c.617C= ENSP00000501646.1:p.Thr206=
ENST00000675113.1:c.617C= ENSP00000502623.1:p.Thr206=
ENST00000675194.1:n.1042C=
ENST00000675231.1:c.617C= ENSP00000502404.1:p.Thr206=
ENST00000675298.1:c.617C= ENSP00000501839.1:p.Thr206=
ENST00000675374.1:n.307C=
ENST00000675483.1:n.745C=
ENST00000675512.1:c.*619C= ENSP00000502630.1:n.*619C=
ENST00000675528.1:n.108C=
ENST00000675817.1:c.617C= ENSP00000502422.1:p.Thr206=
ENST00000675872.1:n.868C=
ENST00000675919.1:c.617C= ENSP00000501776.1:p.Thr206=
ENST00000675959.1:n.1014C=
ENST00000675987.1:c.617C= ENSP00000502145.1:p.Thr206=
ENST00000676293.1:c.617C= ENSP00000502362.1:p.Thr206=
ENST00000676426.1:c.599+1366C= ENSP00000502359.1:n.599+1366C=
XM_005263543.2:c.617C= XP_005263600.1:p.Thr206=
XM_005263543.3:c.617C= XP_005263600.1:p.Thr206=
XM_005263545.2:c.617C= XP_005263602.1:p.Thr206=
XM_005263545.3:c.617C= XP_005263602.1:p.Thr206=
XM_005263547.2:c.617C= XP_005263604.1:p.Thr206=
XM_005263547.3:c.617C= XP_005263604.1:p.Thr206=
XM_005263548.2:c.617C= XP_005263605.1:p.Thr206=
XM_005263548.3:c.617C= XP_005263605.1:p.Thr206=
XM_024451299.1:c.617C= XP_024307067.1:p.Thr206=