Canonical Allele Identifier: CA2580611412

Gene: MFN2

Linked Data

• ClinVar Variation Id: 2073040
• ClinVar RCV Id: RCV002949719
• gnomAD v4: 1-12009580-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12009585_12009587del , CM000663.2:g.12009585_12009587del	GRCh38
NC_000001.10:g.12069642_12069644del , CM000663.1:g.12069642_12069644del	GRCh37
NC_000001.9:g.11992229_11992231del	NCBI36
NG_007945.1:g.34405_34407del , LRG_255:g.34405_34407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.2070-7_2070-5del MANE Select	ENSP00000235329.5:n.2070-7_2070-5del
ENST00000674548.1:c.2070-7_2070-5del	ENSP00000502185.1:n.2070-7_2070-5del
ENST00000674658.1:c.1725-7_1725-5del	ENSP00000502334.1:n.1725-7_1725-5del
ENST00000674817.1:c.2070-7_2070-5del	ENSP00000502151.1:n.2070-7_2070-5del
ENST00000674910.1:c.2070-7_2070-5del	ENSP00000501716.1:n.2070-7_2070-5del
ENST00000675043.1:n.31_33del
ENST00000675053.1:c.2070-7_2070-5del	ENSP00000501646.1:n.2070-7_2070-5del
ENST00000675113.1:c.2070-7_2070-5del	ENSP00000502623.1:n.2070-7_2070-5del
ENST00000675231.1:c.2070-7_2070-5del	ENSP00000502404.1:n.2070-7_2070-5del
ENST00000675298.1:c.2070-7_2070-5del	ENSP00000501839.1:n.2070-7_2070-5del
ENST00000675404.1:n.2305-7_2305-5del
ENST00000675483.1:n.2198-7_2198-5del
ENST00000675512.1:c.*2072-7_*2072-5del	ENSP00000502630.1:n.*2072-7_*2072-5del
ENST00000675528.1:n.1561-7_1561-5del
ENST00000675817.1:c.2202-7_2202-5del	ENSP00000502422.1:n.2202-7_2202-5del
ENST00000675872.1:n.2430-7_2430-5del
ENST00000675919.1:c.2070-7_2070-5del	ENSP00000501776.1:n.2070-7_2070-5del
ENST00000675959.1:n.2576-7_2576-5del
ENST00000675987.1:c.*43-7_*43-5del	ENSP00000502145.1:n.*43-7_*43-5del
ENST00000676293.1:c.2070-7_2070-5del	ENSP00000502362.1:n.2070-7_2070-5del
ENST00000676295.1:n.483-7_483-5del
ENST00000676426.1:c.*1070-7_*1070-5del	ENSP00000502359.1:n.*1070-7_*1070-5del
ENST00000235329.9:c.2070-7_2070-5del	ENSP00000235329.5:n.2070-7_2070-5del
ENST00000444836.5:c.2070-7_2070-5del	ENSP00000416338.1:n.2070-7_2070-5del
NM_001127660.1:c.2070-7_2070-5del	NP_001121132.1:n.2070-7_2070-5del
NM_014874.3:c.2070-7_2070-5del , LRG_255t1:c.2070-7_2070-5del	NP_055689.1:n.2070-7_2070-5del
XM_005263543.2:c.2070-7_2070-5del	XP_005263600.1:n.2070-7_2070-5del
XM_005263545.2:c.2070-7_2070-5del	XP_005263602.1:n.2070-7_2070-5del
XM_005263547.2:c.2070-7_2070-5del	XP_005263604.1:n.2070-7_2070-5del
XM_005263548.2:c.2070-7_2070-5del	XP_005263605.1:n.2070-7_2070-5del
XM_005263543.3:c.2070-7_2070-5del	XP_005263600.1:n.2070-7_2070-5del
XM_005263545.3:c.2070-7_2070-5del	XP_005263602.1:n.2070-7_2070-5del
XM_005263547.3:c.2070-7_2070-5del	XP_005263604.1:n.2070-7_2070-5del
XM_005263548.3:c.2070-7_2070-5del	XP_005263605.1:n.2070-7_2070-5del
XM_024451299.1:c.2070-7_2070-5del	XP_024307067.1:n.2070-7_2070-5del
NM_014874.4:c.2070-7_2070-5del MANE Select	NP_055689.1:n.2070-7_2070-5del
NM_001127660.2:c.2070-7_2070-5del	NP_001121132.1:n.2070-7_2070-5del