Canonical Allele Identifier: CA2580611410

Gene: MFN2

Linked Data

• ClinVar Variation Id: 2024169
• ClinVar RCV Id: RCV002863115
• gnomAD v4: 1-12007234-GCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12007238_12007240del , CM000663.2:g.12007238_12007240del	GRCh38
NC_000001.10:g.12067295_12067297del , CM000663.1:g.12067295_12067297del	GRCh37
NC_000001.9:g.11989882_11989884del	NCBI36
NG_007945.1:g.32058_32060del , LRG_255:g.32058_32060del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.2058_2060del MANE Select	ENSP00000235329.5:p.His686del
ENST00000674548.1:c.2058_2060del	ENSP00000502185.1:p.His686del
ENST00000674658.1:c.1713_1715del	ENSP00000502334.1:p.His571del
ENST00000674817.1:c.2058_2060del	ENSP00000502151.1:p.His686del
ENST00000674910.1:c.2058_2060del	ENSP00000501716.1:p.His686del
ENST00000675053.1:c.2058_2060del	ENSP00000501646.1:p.His686del
ENST00000675113.1:c.2058_2060del	ENSP00000502623.1:p.His686del
ENST00000675231.1:c.2058_2060del	ENSP00000502404.1:p.His686del
ENST00000675298.1:c.2058_2060del	ENSP00000501839.1:p.His686del
ENST00000675404.1:n.2293_2295del
ENST00000675483.1:n.2186_2188del
ENST00000675512.1:c.*2060_*2062del	ENSP00000502630.1:n.*2060_*2062del
ENST00000675528.1:n.1549_1551del
ENST00000675817.1:c.2190_2192del	ENSP00000502422.1:p.His730del
ENST00000675872.1:n.2418_2420del
ENST00000675919.1:c.2058_2060del	ENSP00000501776.1:p.His686del
ENST00000675959.1:n.2564_2566del
ENST00000675987.1:c.2058_2060del	ENSP00000502145.1:p.His686del
ENST00000676293.1:c.2058_2060del	ENSP00000502362.1:p.His686del
ENST00000676295.1:n.471_473del
ENST00000676426.1:c.*1058_*1060del	ENSP00000502359.1:n.*1058_*1060del
ENST00000235329.9:c.2058_2060del	ENSP00000235329.5:p.His686del
ENST00000444836.5:c.2058_2060del	ENSP00000416338.1:p.His686del
NM_001127660.1:c.2058_2060del	NP_001121132.1:p.His686del
NM_014874.3:c.2058_2060del , LRG_255t1:c.2058_2060del	NP_055689.1:p.His686del
XM_005263543.2:c.2058_2060del	XP_005263600.1:p.His686del
XM_005263545.2:c.2058_2060del	XP_005263602.1:p.His686del
XM_005263547.2:c.2058_2060del	XP_005263604.1:p.His686del
XM_005263548.2:c.2058_2060del	XP_005263605.1:p.His686del
XM_005263543.3:c.2058_2060del	XP_005263600.1:p.His686del
XM_005263545.3:c.2058_2060del	XP_005263602.1:p.His686del
XM_005263547.3:c.2058_2060del	XP_005263604.1:p.His686del
XM_005263548.3:c.2058_2060del	XP_005263605.1:p.His686del
XM_024451299.1:c.2058_2060del	XP_024307067.1:p.His686del
NM_014874.4:c.2058_2060del MANE Select	NP_055689.1:p.His686del
NM_001127660.2:c.2058_2060del	NP_001121132.1:p.His686del