Canonical Allele Identifier: CA18027289

Gene: MFN2

Linked Data

• dbSNP Id: rs963600294
• gnomAD v3: 1-11980337-C-T
• gnomAD v4: 1-11980337-C-T
• MyVariant Identifiers: chr1:g.12040394C>T (hg19) ; chr1:g.11980337C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11980337C>T , CM000663.2:g.11980337C>T	GRCh38
NC_000001.10:g.12040394C>T , CM000663.1:g.12040394C>T	GRCh37
NC_000001.9:g.11962981C>T	NCBI36
NG_007945.1:g.5157C>T , LRG_255:g.5157C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412236.2:c.-361C>T	ENSP00000412023.1:n.-361C>T
ENST00000674548.1:c.-242C>T	ENSP00000502185.1:n.-242C>T
ENST00000674658.1:c.-395C>T	ENSP00000502334.1:n.-395C>T
ENST00000674706.1:n.79C>T
ENST00000674817.1:c.-152C>T	ENSP00000502151.1:n.-152C>T
ENST00000674910.1:c.-274C>T	ENSP00000501716.1:n.-274C>T
ENST00000675053.1:c.-200C>T	ENSP00000501646.1:n.-200C>T
ENST00000675194.1:n.129C>T
ENST00000675231.1:c.-525C>T	ENSP00000502404.1:n.-525C>T
ENST00000675298.1:c.-297C>T	ENSP00000501839.1:n.-297C>T
ENST00000675530.1:c.-293C>T	ENSP00000501972.1:n.-293C>T
ENST00000675817.1:c.-297C>T	ENSP00000502422.1:n.-297C>T
ENST00000675872.1:n.100C>T
ENST00000675959.1:n.101C>T
ENST00000676369.1:c.-365C>T	ENSP00000502005.1:n.-365C>T
ENST00000676426.1:c.-297C>T	ENSP00000502359.1:n.-297C>T
ENST00000235329.9:c.-297C>T	ENSP00000235329.5:n.-297C>T
ENST00000444836.5:c.-152C>T	ENSP00000416338.1:n.-152C>T
ENST00000490079.5:n.39C>T
NM_001127660.1:c.-152C>T	NP_001121132.1:n.-152C>T
NM_014874.3:c.-297C>T , LRG_255t1:c.-297C>T	NP_055689.1:n.-297C>T
XM_005263543.2:c.-365C>T	XP_005263600.1:n.-365C>T
XM_005263545.2:c.-293C>T	XP_005263602.1:n.-293C>T
XM_005263548.2:c.-361C>T	XP_005263605.1:n.-361C>T
XM_005263543.3:c.-365C>T	XP_005263600.1:n.-365C>T
XM_005263545.3:c.-293C>T	XP_005263602.1:n.-293C>T
XM_005263548.3:c.-361C>T	XP_005263605.1:n.-361C>T
XM_024451299.1:c.-525C>T	XP_024307067.1:n.-525C>T