Canonical Allele Identifier: CA998643464

Gene: MFN2

Linked Data

• dbSNP Id: rs1638389024
• gnomAD v3: 1-11986010-TGC-T
• gnomAD v4: 1-11986010-TGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11986011_11986012del , CM000663.2:g.11986011_11986012del	GRCh38
NC_000001.10:g.12046068_12046069del , CM000663.1:g.12046068_12046069del	GRCh37
NC_000001.9:g.11968655_11968656del	NCBI36
NG_007945.1:g.10831_10832del , LRG_255:g.10831_10832del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.-4-3154_-4-3153del MANE Select	ENSP00000235329.5:n.-4-3154_-4-3153del
ENST00000412236.2:c.-4-3154_-4-3153del	ENSP00000412023.1:n.-4-3154_-4-3153del
ENST00000674548.1:c.-94-2416_-94-2415del	ENSP00000502185.1:n.-94-2416_-94-2415del
ENST00000674658.1:c.-35+3421_-35+3422del	ENSP00000502334.1:n.-35+3421_-35+3422del
ENST00000674706.1:n.436-3154_436-3153del
ENST00000674817.1:c.-4-3154_-4-3153del	ENSP00000502151.1:n.-4-3154_-4-3153del
ENST00000674910.1:c.-126-2711_-126-2710del	ENSP00000501716.1:n.-126-2711_-126-2710del
ENST00000675053.1:c.-4-3154_-4-3153del	ENSP00000501646.1:n.-4-3154_-4-3153del
ENST00000675113.1:c.-66-2771_-66-2770del	ENSP00000502623.1:n.-66-2771_-66-2770del
ENST00000675194.1:n.422-3154_422-3153del
ENST00000675231.1:c.-4-3154_-4-3153del	ENSP00000502404.1:n.-4-3154_-4-3153del
ENST00000675298.1:c.-4-3154_-4-3153del	ENSP00000501839.1:n.-4-3154_-4-3153del
ENST00000675512.1:c.-4-3154_-4-3153del	ENSP00000502630.1:n.-4-3154_-4-3153del
ENST00000675530.1:c.-4-3154_-4-3153del	ENSP00000501972.1:n.-4-3154_-4-3153del
ENST00000675781.1:c.-4-3154_-4-3153del	ENSP00000501947.1:n.-4-3154_-4-3153del
ENST00000675817.1:c.-4-3154_-4-3153del	ENSP00000502422.1:n.-4-3154_-4-3153del
ENST00000675872.1:n.248-3154_248-3153del
ENST00000675919.1:c.-94-2416_-94-2415del	ENSP00000501776.1:n.-94-2416_-94-2415del
ENST00000675959.1:n.394-3154_394-3153del
ENST00000675987.1:c.-4-3154_-4-3153del	ENSP00000502145.1:n.-4-3154_-4-3153del
ENST00000676293.1:c.-126-2711_-126-2710del	ENSP00000502362.1:n.-126-2711_-126-2710del
ENST00000676369.1:c.-4-3154_-4-3153del	ENSP00000502005.1:n.-4-3154_-4-3153del
ENST00000676426.1:c.-4-3154_-4-3153del	ENSP00000502359.1:n.-4-3154_-4-3153del
ENST00000235329.9:c.-4-3154_-4-3153del	ENSP00000235329.5:n.-4-3154_-4-3153del
ENST00000412236.1:c.-4-3154_-4-3153del	ENSP00000412023.1:n.-4-3154_-4-3153del
ENST00000444836.5:c.-4-3154_-4-3153del	ENSP00000416338.1:n.-4-3154_-4-3153del
ENST00000484391.5:n.116-3154_116-3153del
ENST00000490079.5:n.376-3154_376-3153del
ENST00000497302.1:n.196-3154_196-3153del
NM_001127660.1:c.-4-3154_-4-3153del	NP_001121132.1:n.-4-3154_-4-3153del
NM_014874.3:c.-4-3154_-4-3153del , LRG_255t1:c.-4-3154_-4-3153del	NP_055689.1:n.-4-3154_-4-3153del
XM_005263543.2:c.-4-3154_-4-3153del	XP_005263600.1:n.-4-3154_-4-3153del
XM_005263545.2:c.-4-3154_-4-3153del	XP_005263602.1:n.-4-3154_-4-3153del
XM_005263547.2:c.-4-3154_-4-3153del	XP_005263604.1:n.-4-3154_-4-3153del
XM_005263548.2:c.-4-3154_-4-3153del	XP_005263605.1:n.-4-3154_-4-3153del
XM_005263543.3:c.-4-3154_-4-3153del	XP_005263600.1:n.-4-3154_-4-3153del
XM_005263545.3:c.-4-3154_-4-3153del	XP_005263602.1:n.-4-3154_-4-3153del
XM_005263547.3:c.-4-3154_-4-3153del	XP_005263604.1:n.-4-3154_-4-3153del
XM_005263548.3:c.-4-3154_-4-3153del	XP_005263605.1:n.-4-3154_-4-3153del
XM_024451299.1:c.-4-3154_-4-3153del	XP_024307067.1:n.-4-3154_-4-3153del
NM_014874.4:c.-4-3154_-4-3153del MANE Select	NP_055689.1:n.-4-3154_-4-3153del
NM_001127660.2:c.-4-3154_-4-3153del	NP_001121132.1:n.-4-3154_-4-3153del