Canonical Allele Identifier: CA2742486972

Gene: MFN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11982303_11982304insACAA , CM000663.2:g.11982303_11982304insACAA	GRCh38
NC_000001.10:g.12042360_12042361insACAA , CM000663.1:g.12042360_12042361insACAA	GRCh37
NC_000001.9:g.11964947_11964948insACAA	NCBI36
NG_007945.1:g.7123_7124insACAA , LRG_255:g.7123_7124insACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.-5+189_-5+190insACAA MANE Select	ENSP00000235329.5:n.-5+189_-5+190insACAA
ENST00000412236.2:c.-73+189_-73+190insACAA	ENSP00000412023.1:n.-73+189_-73+190insACAA
ENST00000674548.1:c.-95+1819_-95+1820insACAA	ENSP00000502185.1:n.-95+1819_-95+1820insACAA
ENST00000674658.1:c.-103+189_-103+190insACAA	ENSP00000502334.1:n.-103+189_-103+190insACAA
ENST00000674706.1:n.367+189_367+190insACAA
ENST00000674817.1:c.-5+1819_-5+1820insACAA	ENSP00000502151.1:n.-5+1819_-5+1820insACAA
ENST00000674910.1:c.-127+1819_-127+1820insACAA	ENSP00000501716.1:n.-127+1819_-127+1820insACAA
ENST00000675053.1:c.-5+189_-5+190insACAA	ENSP00000501646.1:n.-5+189_-5+190insACAA
ENST00000675113.1:c.-67+189_-67+190insACAA	ENSP00000502623.1:n.-67+189_-67+190insACAA
ENST00000675194.1:n.421+189_421+190insACAA
ENST00000675231.1:c.-73+189_-73+190insACAA	ENSP00000502404.1:n.-73+189_-73+190insACAA
ENST00000675298.1:c.-5+189_-5+190insACAA	ENSP00000501839.1:n.-5+189_-5+190insACAA
ENST00000675512.1:c.-5+189_-5+190insACAA	ENSP00000502630.1:n.-5+189_-5+190insACAA
ENST00000675530.1:c.-5+189_-5+190insACAA	ENSP00000501972.1:n.-5+189_-5+190insACAA
ENST00000675781.1:c.-5+189_-5+190insACAA	ENSP00000501947.1:n.-5+189_-5+190insACAA
ENST00000675817.1:c.-5+189_-5+190insACAA	ENSP00000502422.1:n.-5+189_-5+190insACAA
ENST00000675872.1:n.247+1819_247+1820insACAA
ENST00000675919.1:c.-95+189_-95+190insACAA	ENSP00000501776.1:n.-95+189_-95+190insACAA
ENST00000675959.1:n.393+189_393+190insACAA
ENST00000675987.1:c.-5+189_-5+190insACAA	ENSP00000502145.1:n.-5+189_-5+190insACAA
ENST00000676293.1:c.-127+189_-127+190insACAA	ENSP00000502362.1:n.-127+189_-127+190insACAA
ENST00000676369.1:c.-73+189_-73+190insACAA	ENSP00000502005.1:n.-73+189_-73+190insACAA
ENST00000676426.1:c.-5+189_-5+190insACAA	ENSP00000502359.1:n.-5+189_-5+190insACAA
ENST00000235329.9:c.-5+189_-5+190insACAA	ENSP00000235329.5:n.-5+189_-5+190insACAA
ENST00000412236.1:c.-73+189_-73+190insACAA	ENSP00000412023.1:n.-73+189_-73+190insACAA
ENST00000444836.5:c.-5+1819_-5+1820insACAA	ENSP00000416338.1:n.-5+1819_-5+1820insACAA
ENST00000484391.5:n.115+1819_115+1820insACAA
ENST00000490079.5:n.375+189_375+190insACAA
ENST00000497302.1:n.195+189_195+190insACAA
NM_001127660.1:c.-5+1819_-5+1820insACAA	NP_001121132.1:n.-5+1819_-5+1820insACAA
NM_014874.3:c.-5+189_-5+190insACAA , LRG_255t1:c.-5+189_-5+190insACAA	NP_055689.1:n.-5+189_-5+190insACAA
XM_005263543.2:c.-73+189_-73+190insACAA	XP_005263600.1:n.-73+189_-73+190insACAA
XM_005263545.2:c.-5+189_-5+190insACAA	XP_005263602.1:n.-5+189_-5+190insACAA
XM_005263547.2:c.-5+189_-5+190insACAA	XP_005263604.1:n.-5+189_-5+190insACAA
XM_005263548.2:c.-73+189_-73+190insACAA	XP_005263605.1:n.-73+189_-73+190insACAA
XM_005263543.3:c.-73+189_-73+190insACAA	XP_005263600.1:n.-73+189_-73+190insACAA
XM_005263545.3:c.-5+189_-5+190insACAA	XP_005263602.1:n.-5+189_-5+190insACAA
XM_005263547.3:c.-5+189_-5+190insACAA	XP_005263604.1:n.-5+189_-5+190insACAA
XM_005263548.3:c.-73+189_-73+190insACAA	XP_005263605.1:n.-73+189_-73+190insACAA
XM_024451299.1:c.-73+189_-73+190insACAA	XP_024307067.1:n.-73+189_-73+190insACAA
NM_014874.4:c.-5+189_-5+190insACAA MANE Select	NP_055689.1:n.-5+189_-5+190insACAA
NM_001127660.2:c.-5+1819_-5+1820insACAA	NP_001121132.1:n.-5+1819_-5+1820insACAA