ClinVar

NM_012237.4(SIRT2):c.396C>T (p.Phe132=)

Gene:

SIRT2:sirtuin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38889725 (on Assembly GRCh38)
• Chr19: 39380365 (on Assembly GRCh37)

Preferred name:

NM_012237.4(SIRT2):c.396C>T (p.Phe132=)

HGVS:

• NC_000019.10:g.38889725G>A
• NM_001193286.2:c.285C>T
• NM_012237.4:c.396C>TMANE SELECT
• NM_030593.3:c.285C>T
• NP_001180215.1:p.Phe95=
• NP_036369.2:p.Phe132=
• NP_085096.1:p.Phe95=
• NC_000019.9:g.39380365G>A
• NM_012237.3:c.396C>T
• NR_034146.1:n.621C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs769837989

NCBI 1000 Genomes Browser:

rs769837989

Molecular consequence:

• NR_034146.1:n.621C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001193286.2:c.285C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_012237.4:c.396C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_030593.3:c.285C>T - synonymous variant - [Sequence Ontology: SO:0001819]