ClinVar

NM_001103.4(ACTN2):c.2610G>A (p.Ser870=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

• Chr1: 236762544 (on Assembly GRCh38)
• Chr1: 236925844 (on Assembly GRCh37)

Preferred name:

NM_001103.4(ACTN2):c.2610G>A (p.Ser870=)

Other names:

p.S870S:TCG>TCA

HGVS:

• NC_000001.11:g.236762544G>A
• NG_009081.2:g.103404G>A
• NM_001103.4:c.2610G>AMANE SELECT
• NM_001278343.2:c.2610G>A
• NM_001278344.2:c.1986G>A
• NP_001094.1:p.Ser870=
• NP_001094.1:p.Ser870=
• NP_001265272.1:p.Ser870=
• NP_001265273.1:p.Ser662=
• NP_001265273.1:p.Ser662=
• LRG_436t1:c.2610G>A
• LRG_436:g.103404G>A
• LRG_436p1:p.Ser870=
• NC_000001.10:g.236925844G>A
• NG_009081.1:g.81075G>A
• NM_001103.2:c.2610G>A
• NM_001103.3:c.2610G>A
• NM_001278344.1:c.1986G>A
• c.2610G>A
• p.Ser870Ser

This HGVS expression did not pass validation

Links:

dbSNP: rs12063382

NCBI 1000 Genomes Browser:

rs12063382

Molecular consequence:

• NM_001103.4:c.2610G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001278343.2:c.2610G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001278344.2:c.1986G>A - synonymous variant - [Sequence Ontology: SO:0001819]