Canonical Allele Identifier: CA338453866

Gene: MFN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12011509T>A , CM000663.2:g.12011509T>A	GRCh38
NC_000001.10:g.12071566T>A , CM000663.1:g.12071566T>A	GRCh37
NC_000001.9:g.11994153T>A	NCBI36
NG_007945.1:g.36329T>A , LRG_255:g.36329T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014874.4:c.2218T>A MANE Select	NP_055689.1:p.Trp740Arg
ENST00000235329.10:c.2218T>A MANE Select	ENSP00000235329.5:p.Trp740Arg
NM_001127660.1:c.2218T>A	NP_001121132.1:p.Trp740Arg
NM_001127660.2:c.2218T>A	NP_001121132.1:p.Trp740Arg
NM_014874.3:c.2218T>A , LRG_255t1:c.2218T>A	NP_055689.1:p.Trp740Arg
ENST00000235329.9:c.2218T>A	ENSP00000235329.5:p.Trp740Arg
ENST00000444836.5:c.2218T>A	ENSP00000416338.1:p.Trp740Arg
ENST00000674548.1:c.2218T>A	ENSP00000502185.1:p.Trp740Arg
ENST00000674658.1:c.1873T>A	ENSP00000502334.1:p.Trp625Arg
ENST00000674817.1:c.2218T>A	ENSP00000502151.1:p.Trp740Arg
ENST00000674910.1:c.2218T>A	ENSP00000501716.1:p.Trp740Arg
ENST00000675043.1:n.186T>A
ENST00000675053.1:c.2218T>A	ENSP00000501646.1:p.Trp740Arg
ENST00000675113.1:c.2218T>A	ENSP00000502623.1:p.Trp740Arg
ENST00000675231.1:c.2218T>A	ENSP00000502404.1:p.Trp740Arg
ENST00000675298.1:c.2204+1783T>A	ENSP00000501839.1:n.2204+1783T>A
ENST00000675404.1:n.2453T>A
ENST00000675483.1:n.2346T>A
ENST00000675512.1:c.*2220T>A	ENSP00000502630.1:n.*2220T>A
ENST00000675528.1:n.1709T>A
ENST00000675817.1:c.2350T>A	ENSP00000502422.1:p.Trp784Arg
ENST00000675872.1:n.2578T>A
ENST00000675919.1:c.2218T>A	ENSP00000501776.1:p.Trp740Arg
ENST00000675959.1:n.2724T>A
ENST00000675987.1:c.*191T>A	ENSP00000502145.1:n.*191T>A
ENST00000676293.1:c.2218T>A	ENSP00000502362.1:p.Trp740Arg
ENST00000676295.1:n.631T>A
ENST00000676426.1:c.*1218T>A	ENSP00000502359.1:n.*1218T>A
XM_005263543.2:c.2218T>A	XP_005263600.1:p.Trp740Arg
XM_005263543.3:c.2218T>A	XP_005263600.1:p.Trp740Arg
XM_005263545.2:c.2218T>A	XP_005263602.1:p.Trp740Arg
XM_005263545.3:c.2218T>A	XP_005263602.1:p.Trp740Arg
XM_005263547.2:c.2218T>A	XP_005263604.1:p.Trp740Arg
XM_005263547.3:c.2218T>A	XP_005263604.1:p.Trp740Arg
XM_005263548.2:c.2218T>A	XP_005263605.1:p.Trp740Arg
XM_005263548.3:c.2218T>A	XP_005263605.1:p.Trp740Arg
XM_024451299.1:c.2218T>A	XP_024307067.1:p.Trp740Arg