ClinVar

NM_002180.3(IGHMBP2):c.2139C>T (p.Asn713=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.3

Genomic location:

• Chr11: 68936619 (on Assembly GRCh38)
• Chr11: 68704087 (on Assembly GRCh37)

Preferred name:

NM_002180.3(IGHMBP2):c.2139C>T (p.Asn713=)

HGVS:

• NC_000011.10:g.68936619C>T
• NG_007976.1:g.37769C>T
• NM_002180.3:c.2139C>TMANE SELECT
• NP_002171.2:p.Asn713=
• NP_002171.2:p.Asn713=
• LRG_250t1:c.2139C>T
• LRG_250:g.37769C>T
• LRG_250p1:p.Asn713=
• NC_000011.9:g.68704087C>T
• NM_002180.2:c.2139C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs199879444

NCBI 1000 Genomes Browser:

rs199879444

Molecular consequence:

• NM_002180.3:c.2139C>T - synonymous variant - [Sequence Ontology: SO:0001819]