ClinVar

NM_002180.3(IGHMBP2):c.2394G>C (p.Gly798=)

Gene:

IGHMBP2:immunoglobulin mu DNA binding protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.3

Genomic location:

• Chr11: 68936874 (on Assembly GRCh38)
• Chr11: 68704342 (on Assembly GRCh37)

Preferred name:

NM_002180.3(IGHMBP2):c.2394G>C (p.Gly798=)

HGVS:

• NC_000011.10:g.68936874G>C
• NG_007976.1:g.38024G>C
• NM_002180.3:c.2394G>CMANE SELECT
• NP_002171.2:p.Gly798=
• NP_002171.2:p.Gly798=
• LRG_250t1:c.2394G>C
• LRG_250:g.38024G>C
• LRG_250p1:p.Gly798=
• NC_000011.9:g.68704342G>C
• NM_002180.2:c.2394G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs757779436

NCBI 1000 Genomes Browser:

rs757779436

Molecular consequence:

• NM_002180.3:c.2394G>C - synonymous variant - [Sequence Ontology: SO:0001819]