Canonical Allele Identifier: CA2643321071
Gene: MFN2 HGNC NCBI

Linked Data

gnomAD v4: 1-11980391-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11980391G>T , CM000663.2:g.11980391G>T GRCh38
NC_000001.10:g.12040448G>T , CM000663.1:g.12040448G>T GRCh37
NC_000001.9:g.11963035G>T NCBI36
NG_007945.1:g.5211G>T , LRG_255:g.5211G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000412236.2:c.-307G>T ENSP00000412023.1:n.-307G>T
ENST00000674548.1:c.-188G>T ENSP00000502185.1:n.-188G>T
ENST00000674658.1:c.-341G>T ENSP00000502334.1:n.-341G>T
ENST00000674706.1:n.133G>T
ENST00000674817.1:c.-98G>T ENSP00000502151.1:n.-98G>T
ENST00000674910.1:c.-220G>T ENSP00000501716.1:n.-220G>T
ENST00000675053.1:c.-146G>T ENSP00000501646.1:n.-146G>T
ENST00000675194.1:n.183G>T
ENST00000675231.1:c.-471G>T ENSP00000502404.1:n.-471G>T
ENST00000675298.1:c.-243G>T ENSP00000501839.1:n.-243G>T
ENST00000675530.1:c.-239G>T ENSP00000501972.1:n.-239G>T
ENST00000675817.1:c.-243G>T ENSP00000502422.1:n.-243G>T
ENST00000675872.1:n.154G>T
ENST00000675959.1:n.155G>T
ENST00000676369.1:c.-311G>T ENSP00000502005.1:n.-311G>T
ENST00000676426.1:c.-243G>T ENSP00000502359.1:n.-243G>T
ENST00000235329.9:c.-243G>T ENSP00000235329.5:n.-243G>T
ENST00000444836.5:c.-98G>T ENSP00000416338.1:n.-98G>T
ENST00000484391.5:n.22G>T
ENST00000490079.5:n.93G>T
NM_001127660.1:c.-98G>T NP_001121132.1:n.-98G>T
NM_014874.3:c.-243G>T , LRG_255t1:c.-243G>T NP_055689.1:n.-243G>T
XM_005263543.2:c.-311G>T XP_005263600.1:n.-311G>T
XM_005263545.2:c.-239G>T XP_005263602.1:n.-239G>T
XM_005263548.2:c.-307G>T XP_005263605.1:n.-307G>T
XM_005263543.3:c.-311G>T XP_005263600.1:n.-311G>T
XM_005263545.3:c.-239G>T XP_005263602.1:n.-239G>T
XM_005263548.3:c.-307G>T XP_005263605.1:n.-307G>T
XM_024451299.1:c.-471G>T XP_024307067.1:n.-471G>T