Canonical Allele Identifier: CA323623
Gene: MFN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 214640
dbSNP Id: rs863224064
gnomAD v2: 1-12057420-G-A
gnomAD v3: 1-11997363-G-A
gnomAD v4: 1-11997363-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11997363G>A , CM000663.2:g.11997363G>A GRCh38
NC_000001.10:g.12057420G>A , CM000663.1:g.12057420G>A GRCh37
NC_000001.9:g.11980007G>A NCBI36
NG_007945.1:g.22183G>A , LRG_255:g.22183G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000235329.10:c.541G>A MANE Select ENSP00000235329.5:p.Val181Met
ENST00000674548.1:c.541G>A ENSP00000502185.1:p.Val181Met
ENST00000674658.1:c.196G>A ENSP00000502334.1:p.Val66Met
ENST00000674706.1:n.980G>A
ENST00000674817.1:c.541G>A ENSP00000502151.1:p.Val181Met
ENST00000674910.1:c.541G>A ENSP00000501716.1:p.Val181Met
ENST00000675053.1:c.541G>A ENSP00000501646.1:p.Val181Met
ENST00000675113.1:c.541G>A ENSP00000502623.1:p.Val181Met
ENST00000675194.1:n.966G>A
ENST00000675231.1:c.541G>A ENSP00000502404.1:p.Val181Met
ENST00000675298.1:c.541G>A ENSP00000501839.1:p.Val181Met
ENST00000675374.1:n.231G>A
ENST00000675483.1:n.669G>A
ENST00000675512.1:c.*543G>A ENSP00000502630.1:n.*543G>A
ENST00000675817.1:c.541G>A ENSP00000502422.1:p.Val181Met
ENST00000675872.1:n.792G>A
ENST00000675919.1:c.541G>A ENSP00000501776.1:p.Val181Met
ENST00000675959.1:n.938G>A
ENST00000675987.1:c.541G>A ENSP00000502145.1:p.Val181Met
ENST00000676293.1:c.541G>A ENSP00000502362.1:p.Val181Met
ENST00000676426.1:c.541G>A ENSP00000502359.1:p.Val181Met
ENST00000235329.9:c.541G>A ENSP00000235329.5:p.Val181Met
ENST00000444836.5:c.541G>A ENSP00000416338.1:p.Val181Met
NM_001127660.1:c.541G>A NP_001121132.1:p.Val181Met
NM_014874.3:c.541G>A , LRG_255t1:c.541G>A NP_055689.1:p.Val181Met
XM_005263543.2:c.541G>A XP_005263600.1:p.Val181Met
XM_005263545.2:c.541G>A XP_005263602.1:p.Val181Met
XM_005263547.2:c.541G>A XP_005263604.1:p.Val181Met
XM_005263548.2:c.541G>A XP_005263605.1:p.Val181Met
XM_005263543.3:c.541G>A XP_005263600.1:p.Val181Met
XM_005263545.3:c.541G>A XP_005263602.1:p.Val181Met
XM_005263547.3:c.541G>A XP_005263604.1:p.Val181Met
XM_005263548.3:c.541G>A XP_005263605.1:p.Val181Met
XM_024451299.1:c.541G>A XP_024307067.1:p.Val181Met
NM_014874.4:c.541G>A MANE Select NP_055689.1:p.Val181Met
NM_001127660.2:c.541G>A NP_001121132.1:p.Val181Met