Canonical Allele Identifier: CA2643321682

Gene: MFN2

Linked Data

• gnomAD v4: 1-12001475-C-CTCTTCCACAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12001475_12001476insTCTTCCACAA , CM000663.2:g.12001475_12001476insTCTTCCACAA	GRCh38
NC_000001.10:g.12061532_12061533insTCTTCCACAA , CM000663.1:g.12061532_12061533insTCTTCCACAA	GRCh37
NC_000001.9:g.11984119_11984120insTCTTCCACAA	NCBI36
NG_007945.1:g.26295_26296insTCTTCCACAA , LRG_255:g.26295_26296insTCTTCCACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.891_892insTCTTCCACAA MANE Select	ENSP00000235329.5:p.Gly298SerfsTer13
ENST00000674548.1:c.891_892insTCTTCCACAA	ENSP00000502185.1:p.Gly298SerfsTer13
ENST00000674658.1:c.546_547insTCTTCCACAA	ENSP00000502334.1:p.Gly183SerfsTer13
ENST00000674817.1:c.891_892insTCTTCCACAA	ENSP00000502151.1:p.Gly298SerfsTer13
ENST00000674910.1:c.891_892insTCTTCCACAA	ENSP00000501716.1:p.Gly298SerfsTer13
ENST00000675053.1:c.891_892insTCTTCCACAA	ENSP00000501646.1:p.Gly298SerfsTer13
ENST00000675113.1:c.891_892insTCTTCCACAA	ENSP00000502623.1:p.Gly298SerfsTer13
ENST00000675194.1:n.1316_1317insTCTTCCACAA
ENST00000675231.1:c.891_892insTCTTCCACAA	ENSP00000502404.1:p.Gly298SerfsTer13
ENST00000675298.1:c.891_892insTCTTCCACAA	ENSP00000501839.1:p.Gly298SerfsTer13
ENST00000675404.1:n.1126_1127insTCTTCCACAA
ENST00000675483.1:n.1019_1020insTCTTCCACAA
ENST00000675512.1:c.*893_*894insTCTTCCACAA	ENSP00000502630.1:n.*893_*894insTCTTCCACAA
ENST00000675528.1:n.382_383insTCTTCCACAA
ENST00000675817.1:c.891_892insTCTTCCACAA	ENSP00000502422.1:p.Gly298SerfsTer13
ENST00000675872.1:n.1251_1252insTCTTCCACAA
ENST00000675919.1:c.891_892insTCTTCCACAA	ENSP00000501776.1:p.Gly298SerfsTer13
ENST00000675959.1:n.1397_1398insTCTTCCACAA
ENST00000675987.1:c.891_892insTCTTCCACAA	ENSP00000502145.1:p.Gly298SerfsTer13
ENST00000676293.1:c.891_892insTCTTCCACAA	ENSP00000502362.1:p.Gly298SerfsTer13
ENST00000676426.1:c.674_675insTCTTCCACAA	ENSP00000502359.1:p.Gly226LeufsTer?
ENST00000235329.9:c.891_892insTCTTCCACAA	ENSP00000235329.5:p.Gly298SerfsTer13
ENST00000444836.5:c.891_892insTCTTCCACAA	ENSP00000416338.1:p.Gly298SerfsTer13
NM_001127660.1:c.891_892insTCTTCCACAA	NP_001121132.1:p.Gly298SerfsTer13
NM_014874.3:c.891_892insTCTTCCACAA , LRG_255t1:c.891_892insTCTTCCACAA	NP_055689.1:p.Gly298SerfsTer13
XM_005263543.2:c.891_892insTCTTCCACAA	XP_005263600.1:p.Gly298SerfsTer13
XM_005263545.2:c.891_892insTCTTCCACAA	XP_005263602.1:p.Gly298SerfsTer13
XM_005263547.2:c.891_892insTCTTCCACAA	XP_005263604.1:p.Gly298SerfsTer13
XM_005263548.2:c.891_892insTCTTCCACAA	XP_005263605.1:p.Gly298SerfsTer13
XM_005263543.3:c.891_892insTCTTCCACAA	XP_005263600.1:p.Gly298SerfsTer13
XM_005263545.3:c.891_892insTCTTCCACAA	XP_005263602.1:p.Gly298SerfsTer13
XM_005263547.3:c.891_892insTCTTCCACAA	XP_005263604.1:p.Gly298SerfsTer13
XM_005263548.3:c.891_892insTCTTCCACAA	XP_005263605.1:p.Gly298SerfsTer13
XM_024451299.1:c.891_892insTCTTCCACAA	XP_024307067.1:p.Gly298SerfsTer13
NM_014874.4:c.891_892insTCTTCCACAA MANE Select	NP_055689.1:p.Gly298SerfsTer13
NM_001127660.2:c.891_892insTCTTCCACAA	NP_001121132.1:p.Gly298SerfsTer13