Canonical Allele Identifier: CA115466
Gene: MFN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2277
ClinVar RCV Id: RCV000002366 RCV001253214 RCV002426481 RCV003482223
dbSNP Id: rs119103264
MyVariant Identifiers: chr1:g.12061468A>G (hg19) chr1:g.12001411A>G (hg38)
PubMed: PMID:16437557
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.12001411A>G , CM000663.2:g.12001411A>G GRCh38
NC_000001.10:g.12061468A>G , CM000663.1:g.12061468A>G GRCh37
NC_000001.9:g.11984055A>G NCBI36
NG_007945.1:g.26231A>G , LRG_255:g.26231A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000235329.10:c.827A>G MANE Select ENSP00000235329.5:p.Gln276Arg
ENST00000674548.1:c.827A>G ENSP00000502185.1:p.Gln276Arg
ENST00000674658.1:c.482A>G ENSP00000502334.1:p.Gln161Arg
ENST00000674817.1:c.827A>G ENSP00000502151.1:p.Gln276Arg
ENST00000674910.1:c.827A>G ENSP00000501716.1:p.Gln276Arg
ENST00000675053.1:c.827A>G ENSP00000501646.1:p.Gln276Arg
ENST00000675113.1:c.827A>G ENSP00000502623.1:p.Gln276Arg
ENST00000675194.1:n.1252A>G
ENST00000675231.1:c.827A>G ENSP00000502404.1:p.Gln276Arg
ENST00000675298.1:c.827A>G ENSP00000501839.1:p.Gln276Arg
ENST00000675404.1:n.1062A>G
ENST00000675483.1:n.955A>G
ENST00000675512.1:c.*829A>G ENSP00000502630.1:n.*829A>G
ENST00000675528.1:n.318A>G
ENST00000675817.1:c.827A>G ENSP00000502422.1:p.Gln276Arg
ENST00000675872.1:n.1187A>G
ENST00000675919.1:c.827A>G ENSP00000501776.1:p.Gln276Arg
ENST00000675959.1:n.1333A>G
ENST00000675987.1:c.827A>G ENSP00000502145.1:p.Gln276Arg
ENST00000676293.1:c.827A>G ENSP00000502362.1:p.Gln276Arg
ENST00000676426.1:c.610A>G ENSP00000502359.1:p.Ser204Gly
ENST00000235329.9:c.827A>G ENSP00000235329.5:p.Gln276Arg
ENST00000444836.5:c.827A>G ENSP00000416338.1:p.Gln276Arg
NM_001127660.1:c.827A>G NP_001121132.1:p.Gln276Arg
NM_014874.3:c.827A>G , LRG_255t1:c.827A>G NP_055689.1:p.Gln276Arg
XM_005263543.2:c.827A>G XP_005263600.1:p.Gln276Arg
XM_005263545.2:c.827A>G XP_005263602.1:p.Gln276Arg
XM_005263547.2:c.827A>G XP_005263604.1:p.Gln276Arg
XM_005263548.2:c.827A>G XP_005263605.1:p.Gln276Arg
XM_005263543.3:c.827A>G XP_005263600.1:p.Gln276Arg
XM_005263545.3:c.827A>G XP_005263602.1:p.Gln276Arg
XM_005263547.3:c.827A>G XP_005263604.1:p.Gln276Arg
XM_005263548.3:c.827A>G XP_005263605.1:p.Gln276Arg
XM_024451299.1:c.827A>G XP_024307067.1:p.Gln276Arg
NM_014874.4:c.827A>G MANE Select NP_055689.1:p.Gln276Arg
NM_001127660.2:c.827A>G NP_001121132.1:p.Gln276Arg
Search 100 bp 5'
Search 100 bp 3'