ClinVar

NM_001103.4(ACTN2):c.2648C>T (p.Ala883Val)

Gene:

ACTN2:actinin alpha 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

• Chr1: 236762582 (on Assembly GRCh38)
• Chr1: 236925882 (on Assembly GRCh37)

Preferred name:

NM_001103.4(ACTN2):c.2648C>T (p.Ala883Val)

HGVS:

• NC_000001.11:g.236762582C>T
• NG_009081.2:g.103442C>T
• NM_001103.4:c.2648C>TMANE SELECT
• NM_001278343.2:c.2648C>T
• NM_001278344.2:c.2024C>T
• NP_001094.1:p.Ala883Val
• NP_001265272.1:p.Ala883Val
• NP_001265273.1:p.Ala675Val
• LRG_436t1:c.2648C>T
• LRG_436:g.103442C>T
• LRG_436p1:p.Ala883Val
• NC_000001.10:g.236925882C>T
• NG_009081.1:g.81113C>T
• NM_001103.3:c.2648C>T

This HGVS expression did not pass validation

Protein change:

A675V

Links:

dbSNP: rs769564893

NCBI 1000 Genomes Browser:

rs769564893

Molecular consequence:

• NM_001103.4:c.2648C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278343.2:c.2648C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278344.2:c.2024C>T - missense variant - [Sequence Ontology: SO:0001583]