ClinVar

NM_014874.4(MFN2):c.2028C>T (p.Val676=)

Gene:

MFN2:mitofusin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 12007208 (on Assembly GRCh38)
• Chr1: 12067265 (on Assembly GRCh37)

Preferred name:

NM_014874.4(MFN2):c.2028C>T (p.Val676=)

HGVS:

• NC_000001.11:g.12007208C>T
• NG_007945.1:g.32028C>T
• NM_001127660.2:c.2028C>T
• NM_014874.4:c.2028C>TMANE SELECT
• NP_001121132.1:p.Val676=
• NP_055689.1:p.Val676=
• LRG_255t1:c.2028C>T
• LRG_255:g.32028C>T
• NC_000001.10:g.12067265C>T
• NC_000001.10:g.12067265C>T
• NM_014874.3:c.2028C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs780836559

NCBI 1000 Genomes Browser:

rs780836559

Molecular consequence:

• NM_001127660.2:c.2028C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_014874.4:c.2028C>T - synonymous variant - [Sequence Ontology: SO:0001819]