ClinVar

NM_001103.4(ACTN2):c.2560C>T (p.Leu854=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

• Chr1: 236762494 (on Assembly GRCh38)
• Chr1: 236925794 (on Assembly GRCh37)

Preferred name:

NM_001103.4(ACTN2):c.2560C>T (p.Leu854=)

HGVS:

• NC_000001.11:g.236762494C>T
• NG_009081.2:g.103354C>T
• NM_001103.4:c.2560C>TMANE SELECT
• NM_001278343.2:c.2560C>T
• NM_001278344.2:c.1936C>T
• NP_001094.1:p.Leu854=
• NP_001094.1:p.Leu854=
• NP_001265272.1:p.Leu854=
• NP_001265273.1:p.Leu646=
• LRG_436t1:c.2560C>T
• LRG_436:g.103354C>T
• LRG_436p1:p.Leu854=
• NC_000001.10:g.236925794C>T
• NG_009081.1:g.81025C>T
• NM_001103.2:c.2560C>T
• NM_001103.3:c.2560C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs370992948

NCBI 1000 Genomes Browser:

rs370992948

Molecular consequence:

• NM_001103.4:c.2560C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001278343.2:c.2560C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001278344.2:c.1936C>T - synonymous variant - [Sequence Ontology: SO:0001819]