Canonical Allele Identifier: CA998640435

Gene: MFN2

Linked Data

• dbSNP Id: rs1645958115
• gnomAD v3: 1-11980350-C-A
• gnomAD v4: 1-11980350-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11980350C>A , CM000663.2:g.11980350C>A	GRCh38
NC_000001.10:g.12040407C>A , CM000663.1:g.12040407C>A	GRCh37
NC_000001.9:g.11962994C>A	NCBI36
NG_007945.1:g.5170C>A , LRG_255:g.5170C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412236.2:c.-348C>A	ENSP00000412023.1:n.-348C>A
ENST00000674548.1:c.-229C>A	ENSP00000502185.1:n.-229C>A
ENST00000674658.1:c.-382C>A	ENSP00000502334.1:n.-382C>A
ENST00000674706.1:n.92C>A
ENST00000674817.1:c.-139C>A	ENSP00000502151.1:n.-139C>A
ENST00000674910.1:c.-261C>A	ENSP00000501716.1:n.-261C>A
ENST00000675053.1:c.-187C>A	ENSP00000501646.1:n.-187C>A
ENST00000675194.1:n.142C>A
ENST00000675231.1:c.-512C>A	ENSP00000502404.1:n.-512C>A
ENST00000675298.1:c.-284C>A	ENSP00000501839.1:n.-284C>A
ENST00000675530.1:c.-280C>A	ENSP00000501972.1:n.-280C>A
ENST00000675817.1:c.-284C>A	ENSP00000502422.1:n.-284C>A
ENST00000675872.1:n.113C>A
ENST00000675959.1:n.114C>A
ENST00000676369.1:c.-352C>A	ENSP00000502005.1:n.-352C>A
ENST00000676426.1:c.-284C>A	ENSP00000502359.1:n.-284C>A
ENST00000235329.9:c.-284C>A	ENSP00000235329.5:n.-284C>A
ENST00000444836.5:c.-139C>A	ENSP00000416338.1:n.-139C>A
ENST00000490079.5:n.52C>A
NM_001127660.1:c.-139C>A	NP_001121132.1:n.-139C>A
NM_014874.3:c.-284C>A , LRG_255t1:c.-284C>A	NP_055689.1:n.-284C>A
XM_005263543.2:c.-352C>A	XP_005263600.1:n.-352C>A
XM_005263545.2:c.-280C>A	XP_005263602.1:n.-280C>A
XM_005263548.2:c.-348C>A	XP_005263605.1:n.-348C>A
XM_005263543.3:c.-352C>A	XP_005263600.1:n.-352C>A
XM_005263545.3:c.-280C>A	XP_005263602.1:n.-280C>A
XM_005263548.3:c.-348C>A	XP_005263605.1:n.-348C>A
XM_024451299.1:c.-512C>A	XP_024307067.1:n.-512C>A