Canonical Allele Identifier: CA1153897835

Gene: MFN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11982255_11982260delinsCTACCG , CM000663.2:g.11982255_11982260delinsCTACCG	GRCh38
NC_000001.10:g.12042312_12042317delinsCTACCG , CM000663.1:g.12042312_12042317delinsCTACCG	GRCh37
NC_000001.9:g.11964899_11964904delinsCTACCG	NCBI36
NG_007945.1:g.7075_7080delinsCTACCG , LRG_255:g.7075_7080delinsCTACCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.-5+141_-5+146delinsCTACCG MANE Select	ENSP00000235329.5:n.-5+141_-5+146delinsCTACCG
ENST00000412236.2:c.-73+141_-73+146delinsCTACCG	ENSP00000412023.1:n.-73+141_-73+146delinsCTACCG
ENST00000674548.1:c.-95+1771_-95+1776delinsCTACCG	ENSP00000502185.1:n.-95+1771_-95+1776delinsCTACCG
ENST00000674658.1:c.-103+141_-103+146delinsCTACCG	ENSP00000502334.1:n.-103+141_-103+146delinsCTACCG
ENST00000674706.1:n.367+141_367+146delinsCTACCG
ENST00000674817.1:c.-5+1771_-5+1776delinsCTACCG	ENSP00000502151.1:n.-5+1771_-5+1776delinsCTACCG
ENST00000674910.1:c.-127+1771_-127+1776delinsCTACCG	ENSP00000501716.1:n.-127+1771_-127+1776delinsCTACCG
ENST00000675053.1:c.-5+141_-5+146delinsCTACCG	ENSP00000501646.1:n.-5+141_-5+146delinsCTACCG
ENST00000675113.1:c.-67+141_-67+146delinsCTACCG	ENSP00000502623.1:n.-67+141_-67+146delinsCTACCG
ENST00000675194.1:n.421+141_421+146delinsCTACCG
ENST00000675231.1:c.-73+141_-73+146delinsCTACCG	ENSP00000502404.1:n.-73+141_-73+146delinsCTACCG
ENST00000675298.1:c.-5+141_-5+146delinsCTACCG	ENSP00000501839.1:n.-5+141_-5+146delinsCTACCG
ENST00000675512.1:c.-5+141_-5+146delinsCTACCG	ENSP00000502630.1:n.-5+141_-5+146delinsCTACCG
ENST00000675530.1:c.-5+141_-5+146delinsCTACCG	ENSP00000501972.1:n.-5+141_-5+146delinsCTACCG
ENST00000675781.1:c.-5+141_-5+146delinsCTACCG	ENSP00000501947.1:n.-5+141_-5+146delinsCTACCG
ENST00000675817.1:c.-5+141_-5+146delinsCTACCG	ENSP00000502422.1:n.-5+141_-5+146delinsCTACCG
ENST00000675872.1:n.247+1771_247+1776delinsCTACCG
ENST00000675919.1:c.-95+141_-95+146delinsCTACCG	ENSP00000501776.1:n.-95+141_-95+146delinsCTACCG
ENST00000675959.1:n.393+141_393+146delinsCTACCG
ENST00000675987.1:c.-5+141_-5+146delinsCTACCG	ENSP00000502145.1:n.-5+141_-5+146delinsCTACCG
ENST00000676293.1:c.-127+141_-127+146delinsCTACCG	ENSP00000502362.1:n.-127+141_-127+146delinsCTACCG
ENST00000676369.1:c.-73+141_-73+146delinsCTACCG	ENSP00000502005.1:n.-73+141_-73+146delinsCTACCG
ENST00000676426.1:c.-5+141_-5+146delinsCTACCG	ENSP00000502359.1:n.-5+141_-5+146delinsCTACCG
ENST00000235329.9:c.-5+141_-5+146delinsCTACCG	ENSP00000235329.5:n.-5+141_-5+146delinsCTACCG
ENST00000412236.1:c.-73+141_-73+146delinsCTACCG	ENSP00000412023.1:n.-73+141_-73+146delinsCTACCG
ENST00000444836.5:c.-5+1771_-5+1776delinsCTACCG	ENSP00000416338.1:n.-5+1771_-5+1776delinsCTACCG
ENST00000484391.5:n.115+1771_115+1776delinsCTACCG
ENST00000490079.5:n.375+141_375+146delinsCTACCG
ENST00000497302.1:n.195+141_195+146delinsCTACCG
NM_001127660.1:c.-5+1771_-5+1776delinsCTACCG	NP_001121132.1:n.-5+1771_-5+1776delinsCTACCG
NM_014874.3:c.-5+141_-5+146delinsCTACCG , LRG_255t1:c.-5+141_-5+146delinsCTACCG	NP_055689.1:n.-5+141_-5+146delinsCTACCG
XM_005263543.2:c.-73+141_-73+146delinsCTACCG	XP_005263600.1:n.-73+141_-73+146delinsCTACCG
XM_005263545.2:c.-5+141_-5+146delinsCTACCG	XP_005263602.1:n.-5+141_-5+146delinsCTACCG
XM_005263547.2:c.-5+141_-5+146delinsCTACCG	XP_005263604.1:n.-5+141_-5+146delinsCTACCG
XM_005263548.2:c.-73+141_-73+146delinsCTACCG	XP_005263605.1:n.-73+141_-73+146delinsCTACCG
XM_005263543.3:c.-73+141_-73+146delinsCTACCG	XP_005263600.1:n.-73+141_-73+146delinsCTACCG
XM_005263545.3:c.-5+141_-5+146delinsCTACCG	XP_005263602.1:n.-5+141_-5+146delinsCTACCG
XM_005263547.3:c.-5+141_-5+146delinsCTACCG	XP_005263604.1:n.-5+141_-5+146delinsCTACCG
XM_005263548.3:c.-73+141_-73+146delinsCTACCG	XP_005263605.1:n.-73+141_-73+146delinsCTACCG
XM_024451299.1:c.-73+141_-73+146delinsCTACCG	XP_024307067.1:n.-73+141_-73+146delinsCTACCG
NM_014874.4:c.-5+141_-5+146delinsCTACCG MANE Select	NP_055689.1:n.-5+141_-5+146delinsCTACCG
NM_001127660.2:c.-5+1771_-5+1776delinsCTACCG	NP_001121132.1:n.-5+1771_-5+1776delinsCTACCG