ClinVar

NM_001103.4(ACTN2):c.2569G>C (p.Asp857His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

• Chr1: 236762503 (on Assembly GRCh38)
• Chr1: 236925803 (on Assembly GRCh37)

Preferred name:

NM_001103.4(ACTN2):c.2569G>C (p.Asp857His)

HGVS:

• NC_000001.11:g.236762503G>C
• NG_009081.2:g.103363G>C
• NM_001103.4:c.2569G>CMANE SELECT
• NM_001278343.2:c.2569G>C
• NM_001278344.2:c.1945G>C
• NP_001094.1:p.Asp857His
• NP_001094.1:p.Asp857His
• NP_001265272.1:p.Asp857His
• NP_001265273.1:p.Asp649His
• LRG_436t1:c.2569G>C
• LRG_436:g.103363G>C
• LRG_436p1:p.Asp857His
• NC_000001.10:g.236925803G>C
• NG_009081.1:g.81034G>C
• NM_001103.2:c.2569G>C
• NM_001103.3:c.2569G>C

This HGVS expression did not pass validation

Protein change:

D649H

Links:

dbSNP: rs533267299

NCBI 1000 Genomes Browser:

rs533267299

Molecular consequence:

• NM_001103.4:c.2569G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278343.2:c.2569G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278344.2:c.1945G>C - missense variant - [Sequence Ontology: SO:0001583]