Canonical Allele Identifier: CA204307
Gene: MFN2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2276
dbSNP Id: rs119103263

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11992659C>T , CM000663.2:g.11992659C>T GRCh38
NC_000001.9:g.11975303C>T NCBI36
NC_000001.10:g.12052716C>T , CM000663.1:g.12052716C>T GRCh37
NG_007945.1:g.17479C>T , LRG_255:g.17479C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000235329.9:c.280C>T ENSP00000235329.5:p.Arg94Trp
ENST00000412236.1:c.280C>T ENSP00000412023.1:p.Arg94Trp
ENST00000444836.5:c.280C>T ENSP00000416338.1:p.Arg94Trp
NM_001127660.1:c.280C>T VV NP_001121132.1:p.Arg94Trp
NM_014874.3:c.280C>T , LRG_255t1:c.280C>T NP_055689.1:p.Arg94Trp
XM_005263543.2:c.280C>T XP_005263600.1:p.Arg94Trp
XM_005263545.2:c.280C>T XP_005263602.1:p.Arg94Trp
XM_005263547.2:c.280C>T XP_005263604.1:p.Arg94Trp
XM_005263548.2:c.280C>T XP_005263605.1:p.Arg94Trp