ClinVar

NM_001103.4(ACTN2):c.186C>T (p.Ile62=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

• Chr1: 236717917 (on Assembly GRCh38)
• Chr1: 236881217 (on Assembly GRCh37)

Preferred name:

NM_001103.4(ACTN2):c.186C>T (p.Ile62=)

HGVS:

• NC_000001.11:g.236717917C>T
• NG_009081.2:g.58777C>T
• NM_001103.4:c.186C>TMANE SELECT
• NM_001278343.2:c.186C>T
• NM_001278344.2:c.-636C>T
• NP_001094.1:p.Ile62=
• NP_001094.1:p.Ile62=
• NP_001265272.1:p.Ile62=
• LRG_436t1:c.186C>T
• LRG_436:g.58777C>T
• LRG_436p1:p.Ile62=
• NC_000001.10:g.236881217C>T
• NG_009081.1:g.36448C>T
• NM_001103.2:c.186C>T
• NM_001103.3:c.186C>T
• c.186C>T
• p.Ile62Ile

This HGVS expression did not pass validation

Links:

dbSNP: rs34403480

NCBI 1000 Genomes Browser:

rs34403480

Molecular consequence:

• NM_001278344.2:c.-636C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001103.4:c.186C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001278343.2:c.186C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1