Canonical Allele Identifier: CA599352

Gene: MFN2

Linked Data

• dbSNP Id: rs772270096
• ExAC: 1:12069756 CACTT / C
• gnomAD v2: 1-12069756-CACTT-C
• gnomAD v4: 1-12009699-CACTT-C
• MyVariant Identifiers: chr1:g.12069757_12069760del (hg19) ; chr1:g.12009700_12009703del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12009700_12009703del , CM000663.2:g.12009700_12009703del	GRCh38
NC_000001.10:g.12069757_12069760del , CM000663.1:g.12069757_12069760del	GRCh37
NC_000001.9:g.11992344_11992347del	NCBI36
NG_007945.1:g.34520_34523del , LRG_255:g.34520_34523del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.2178_2181del MANE Select	ENSP00000235329.5:p.Leu727ArgfsTer?
ENST00000674548.1:c.2178_2181del	ENSP00000502185.1:p.Leu727ArgfsTer?
ENST00000674658.1:c.1833_1836del	ENSP00000502334.1:p.Leu612ArgfsTer?
ENST00000674817.1:c.2178_2181del	ENSP00000502151.1:p.Leu727ArgfsTer?
ENST00000674910.1:c.2178_2181del	ENSP00000501716.1:p.Leu727ArgfsTer?
ENST00000675043.1:n.146_149del
ENST00000675053.1:c.2178_2181del	ENSP00000501646.1:p.Leu727ArgfsTer?
ENST00000675113.1:c.2178_2181del	ENSP00000502623.1:p.Leu727ArgfsTer?
ENST00000675231.1:c.2178_2181del	ENSP00000502404.1:p.Leu727ArgfsTer?
ENST00000675298.1:c.2178_2181del	ENSP00000501839.1:p.Leu727ArgfsTer?
ENST00000675404.1:n.2413_2416del
ENST00000675483.1:n.2306_2309del
ENST00000675512.1:c.*2180_*2183del	ENSP00000502630.1:n.*2180_*2183del
ENST00000675528.1:n.1669_1672del
ENST00000675817.1:c.2310_2313del	ENSP00000502422.1:p.Leu771ArgfsTer?
ENST00000675872.1:n.2538_2541del
ENST00000675919.1:c.2178_2181del	ENSP00000501776.1:p.Leu727ArgfsTer?
ENST00000675959.1:n.2684_2687del
ENST00000675987.1:c.*151_*154del	ENSP00000502145.1:n.*151_*154del
ENST00000676293.1:c.2178_2181del	ENSP00000502362.1:p.Leu727ArgfsTer?
ENST00000676295.1:n.591_594del
ENST00000676426.1:c.*1178_*1181del	ENSP00000502359.1:n.*1178_*1181del
ENST00000235329.9:c.2178_2181del	ENSP00000235329.5:p.Leu727ArgfsTer?
ENST00000444836.5:c.2178_2181del	ENSP00000416338.1:p.Leu727ArgfsTer?
NM_001127660.1:c.2178_2181del	NP_001121132.1:p.Leu727ArgfsTer?
NM_014874.3:c.2178_2181del , LRG_255t1:c.2178_2181del	NP_055689.1:p.Leu727ArgfsTer?
XM_005263543.2:c.2178_2181del	XP_005263600.1:p.Leu727ArgfsTer?
XM_005263545.2:c.2178_2181del	XP_005263602.1:p.Leu727ArgfsTer?
XM_005263547.2:c.2178_2181del	XP_005263604.1:p.Leu727ArgfsTer?
XM_005263548.2:c.2178_2181del	XP_005263605.1:p.Leu727ArgfsTer?
XM_005263543.3:c.2178_2181del	XP_005263600.1:p.Leu727ArgfsTer?
XM_005263545.3:c.2178_2181del	XP_005263602.1:p.Leu727ArgfsTer?
XM_005263547.3:c.2178_2181del	XP_005263604.1:p.Leu727ArgfsTer?
XM_005263548.3:c.2178_2181del	XP_005263605.1:p.Leu727ArgfsTer?
XM_024451299.1:c.2178_2181del	XP_024307067.1:p.Leu727ArgfsTer?
NM_014874.4:c.2178_2181del MANE Select	NP_055689.1:p.Leu727ArgfsTer?
NM_001127660.2:c.2178_2181del	NP_001121132.1:p.Leu727ArgfsTer?