ClinVar

NM_014874.4(MFN2):c.1287+2T>G

Gene:

MFN2:mitofusin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 12004120 (on Assembly GRCh38)
• Chr1: 12064177 (on Assembly GRCh37)

Preferred name:

NM_014874.4(MFN2):c.1287+2T>G

HGVS:

• NC_000001.11:g.12004120T>G
• NG_007945.1:g.28940T>G
• NM_001127660.2:c.1287+2T>G
• NM_014874.4:c.1287+2T>GMANE SELECT
• LRG_255:g.28940T>G
• NC_000001.10:g.12064177T>G
• NM_001127660.1:c.1287+2T>G

This HGVS expression did not pass validation

Links:

dbSNP: rs758721984

NCBI 1000 Genomes Browser:

rs758721984

Molecular consequence:

• NM_001127660.2:c.1287+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_014874.4:c.1287+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]