Canonical Allele Identifier: CA2643321994

Gene: MFN2

Linked Data

• gnomAD v4: 1-12001626-CAGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12001629_12001631del , CM000663.2:g.12001629_12001631del	GRCh38
NC_000001.10:g.12061686_12061688del , CM000663.1:g.12061686_12061688del	GRCh37
NC_000001.9:g.11984273_11984275del	NCBI36
NG_007945.1:g.26449_26451del , LRG_255:g.26449_26451del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.970+75_970+77del MANE Select	ENSP00000235329.5:n.970+75_970+77del
ENST00000674548.1:c.970+75_970+77del	ENSP00000502185.1:n.970+75_970+77del
ENST00000674658.1:c.625+75_625+77del	ENSP00000502334.1:n.625+75_625+77del
ENST00000674817.1:c.970+75_970+77del	ENSP00000502151.1:n.970+75_970+77del
ENST00000674910.1:c.970+75_970+77del	ENSP00000501716.1:n.970+75_970+77del
ENST00000675053.1:c.970+75_970+77del	ENSP00000501646.1:n.970+75_970+77del
ENST00000675113.1:c.970+75_970+77del	ENSP00000502623.1:n.970+75_970+77del
ENST00000675194.1:n.1395+75_1395+77del
ENST00000675231.1:c.970+75_970+77del	ENSP00000502404.1:n.970+75_970+77del
ENST00000675298.1:c.970+75_970+77del	ENSP00000501839.1:n.970+75_970+77del
ENST00000675404.1:n.1205+75_1205+77del
ENST00000675483.1:n.1098+75_1098+77del
ENST00000675512.1:c.*972+75_*972+77del	ENSP00000502630.1:n.*972+75_*972+77del
ENST00000675528.1:n.461+75_461+77del
ENST00000675817.1:c.970+75_970+77del	ENSP00000502422.1:n.970+75_970+77del
ENST00000675872.1:n.1330+75_1330+77del
ENST00000675919.1:c.970+75_970+77del	ENSP00000501776.1:n.970+75_970+77del
ENST00000675959.1:n.1476+75_1476+77del
ENST00000675987.1:c.970+75_970+77del	ENSP00000502145.1:n.970+75_970+77del
ENST00000676293.1:c.970+75_970+77del	ENSP00000502362.1:n.970+75_970+77del
ENST00000676426.1:c.753+75_753+77del	ENSP00000502359.1:n.753+75_753+77del
ENST00000235329.9:c.970+75_970+77del	ENSP00000235329.5:n.970+75_970+77del
ENST00000444836.5:c.970+75_970+77del	ENSP00000416338.1:n.970+75_970+77del
NM_001127660.1:c.970+75_970+77del	NP_001121132.1:n.970+75_970+77del
NM_014874.3:c.970+75_970+77del , LRG_255t1:c.970+75_970+77del	NP_055689.1:n.970+75_970+77del
XM_005263543.2:c.970+75_970+77del	XP_005263600.1:n.970+75_970+77del
XM_005263545.2:c.970+75_970+77del	XP_005263602.1:n.970+75_970+77del
XM_005263547.2:c.970+75_970+77del	XP_005263604.1:n.970+75_970+77del
XM_005263548.2:c.970+75_970+77del	XP_005263605.1:n.970+75_970+77del
XM_005263543.3:c.970+75_970+77del	XP_005263600.1:n.970+75_970+77del
XM_005263545.3:c.970+75_970+77del	XP_005263602.1:n.970+75_970+77del
XM_005263547.3:c.970+75_970+77del	XP_005263604.1:n.970+75_970+77del
XM_005263548.3:c.970+75_970+77del	XP_005263605.1:n.970+75_970+77del
XM_024451299.1:c.970+75_970+77del	XP_024307067.1:n.970+75_970+77del
NM_014874.4:c.970+75_970+77del MANE Select	NP_055689.1:n.970+75_970+77del
NM_001127660.2:c.970+75_970+77del	NP_001121132.1:n.970+75_970+77del