Canonical Allele Identifier: CA998641625

Gene: MFN2

Linked Data

• gnomAD v3: 1-11982204-AAT-A
• gnomAD v4: 1-11982204-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11982205_11982206del , CM000663.2:g.11982205_11982206del	GRCh38
NC_000001.10:g.12042262_12042263del , CM000663.1:g.12042262_12042263del	GRCh37
NC_000001.9:g.11964849_11964850del	NCBI36
NG_007945.1:g.7025_7026del , LRG_255:g.7025_7026del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.-5+91_-5+92del MANE Select	ENSP00000235329.5:n.-5+91_-5+92del
ENST00000412236.2:c.-73+91_-73+92del	ENSP00000412023.1:n.-73+91_-73+92del
ENST00000674548.1:c.-95+1721_-95+1722del	ENSP00000502185.1:n.-95+1721_-95+1722del
ENST00000674658.1:c.-103+91_-103+92del	ENSP00000502334.1:n.-103+91_-103+92del
ENST00000674706.1:n.367+91_367+92del
ENST00000674817.1:c.-5+1721_-5+1722del	ENSP00000502151.1:n.-5+1721_-5+1722del
ENST00000674910.1:c.-127+1721_-127+1722del	ENSP00000501716.1:n.-127+1721_-127+1722del
ENST00000675053.1:c.-5+91_-5+92del	ENSP00000501646.1:n.-5+91_-5+92del
ENST00000675113.1:c.-67+91_-67+92del	ENSP00000502623.1:n.-67+91_-67+92del
ENST00000675194.1:n.421+91_421+92del
ENST00000675231.1:c.-73+91_-73+92del	ENSP00000502404.1:n.-73+91_-73+92del
ENST00000675298.1:c.-5+91_-5+92del	ENSP00000501839.1:n.-5+91_-5+92del
ENST00000675512.1:c.-5+91_-5+92del	ENSP00000502630.1:n.-5+91_-5+92del
ENST00000675530.1:c.-5+91_-5+92del	ENSP00000501972.1:n.-5+91_-5+92del
ENST00000675781.1:c.-5+91_-5+92del	ENSP00000501947.1:n.-5+91_-5+92del
ENST00000675817.1:c.-5+91_-5+92del	ENSP00000502422.1:n.-5+91_-5+92del
ENST00000675872.1:n.247+1721_247+1722del
ENST00000675919.1:c.-95+91_-95+92del	ENSP00000501776.1:n.-95+91_-95+92del
ENST00000675959.1:n.393+91_393+92del
ENST00000675987.1:c.-5+91_-5+92del	ENSP00000502145.1:n.-5+91_-5+92del
ENST00000676293.1:c.-127+91_-127+92del	ENSP00000502362.1:n.-127+91_-127+92del
ENST00000676369.1:c.-73+91_-73+92del	ENSP00000502005.1:n.-73+91_-73+92del
ENST00000676426.1:c.-5+91_-5+92del	ENSP00000502359.1:n.-5+91_-5+92del
ENST00000235329.9:c.-5+91_-5+92del	ENSP00000235329.5:n.-5+91_-5+92del
ENST00000412236.1:c.-73+91_-73+92del	ENSP00000412023.1:n.-73+91_-73+92del
ENST00000444836.5:c.-5+1721_-5+1722del	ENSP00000416338.1:n.-5+1721_-5+1722del
ENST00000484391.5:n.115+1721_115+1722del
ENST00000490079.5:n.375+91_375+92del
ENST00000497302.1:n.195+91_195+92del
NM_001127660.1:c.-5+1721_-5+1722del	NP_001121132.1:n.-5+1721_-5+1722del
NM_014874.3:c.-5+91_-5+92del , LRG_255t1:c.-5+91_-5+92del	NP_055689.1:n.-5+91_-5+92del
XM_005263543.2:c.-73+91_-73+92del	XP_005263600.1:n.-73+91_-73+92del
XM_005263545.2:c.-5+91_-5+92del	XP_005263602.1:n.-5+91_-5+92del
XM_005263547.2:c.-5+91_-5+92del	XP_005263604.1:n.-5+91_-5+92del
XM_005263548.2:c.-73+91_-73+92del	XP_005263605.1:n.-73+91_-73+92del
XM_005263543.3:c.-73+91_-73+92del	XP_005263600.1:n.-73+91_-73+92del
XM_005263545.3:c.-5+91_-5+92del	XP_005263602.1:n.-5+91_-5+92del
XM_005263547.3:c.-5+91_-5+92del	XP_005263604.1:n.-5+91_-5+92del
XM_005263548.3:c.-73+91_-73+92del	XP_005263605.1:n.-73+91_-73+92del
XM_024451299.1:c.-73+91_-73+92del	XP_024307067.1:n.-73+91_-73+92del
NM_014874.4:c.-5+91_-5+92del MANE Select	NP_055689.1:n.-5+91_-5+92del
NM_001127660.2:c.-5+1721_-5+1722del	NP_001121132.1:n.-5+1721_-5+1722del