ClinVar

NM_001103.4(ACTN2):c.762C>T (p.His254=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

• Chr1: 236735699 (on Assembly GRCh38)
• Chr1: 236898999 (on Assembly GRCh37)

Preferred name:

NM_001103.4(ACTN2):c.762C>T (p.His254=)

HGVS:

• NC_000001.11:g.236735699C>T
• NG_009081.2:g.76559C>T
• NM_001103.4:c.762C>TMANE SELECT
• NM_001278343.2:c.783+1181C>T
• NM_001278344.2:c.27C>T
• NP_001094.1:p.His254=
• NP_001265273.1:p.His9=
• LRG_436t1:c.762C>T
• LRG_436:g.76559C>T
• LRG_436p1:p.His254=
• NC_000001.10:g.236898999C>T
• NG_009081.1:g.54230C>T
• NM_001103.2:c.762C>T
• c.762C>T
• p.His254His

This HGVS expression did not pass validation

Links:

dbSNP: rs397516584

NCBI 1000 Genomes Browser:

rs397516584

Molecular consequence:

• NM_001278343.2:c.783+1181C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001103.4:c.762C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001278344.2:c.27C>T - synonymous variant - [Sequence Ontology: SO:0001819]