ClinVar

NM_000432.4(MYL2):c.376C>T (p.Gln126Ter)

Gene:

MYL2:myosin light chain 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.11

Genomic location:

• Chr12: 110913122 (on Assembly GRCh38)
• Chr12: 111350926 (on Assembly GRCh37)

Preferred name:

NM_000432.4(MYL2):c.376C>T (p.Gln126Ter)

HGVS:

• NC_000012.12:g.110913122G>A
• NG_007554.1:g.12456C>T
• NM_000432.4:c.376C>TMANE SELECT
• NP_000423.2:p.Gln126Ter
• LRG_393t1:c.376C>T
• LRG_393:g.12456C>T
• NC_000012.11:g.111350926G>A
• NM_000432.3:c.376C>T

This HGVS expression did not pass validation

Protein change:

Q126*

Links:

dbSNP: rs1064796377

NCBI 1000 Genomes Browser:

rs1064796377

Molecular consequence:

• NM_000432.4:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]