ClinVar

NM_005419.4(STAT2):c.2116C>T (p.Leu706=)

Gene:

STAT2:signal transducer and activator of transcription 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.3

Genomic location:

• Chr12: 56344122 (on Assembly GRCh38)
• Chr12: 56737906 (on Assembly GRCh37)

Preferred name:

NM_005419.4(STAT2):c.2116C>T (p.Leu706=)

HGVS:

• NC_000012.12:g.56344122G>A
• NG_046314.1:g.21132C>T
• NM_001385110.1:c.2083C>T
• NM_001385111.1:c.2017C>T
• NM_001385113.1:c.2116C>T
• NM_001385114.1:c.2095C>T
• NM_001385115.1:c.2074C>T
• NM_005419.3:c.2116C>T
• NM_005419.4:c.2116C>TMANE SELECT
• NM_198332.2:c.2104C>T
• NP_001372039.1:p.Leu695=
• NP_001372040.1:p.Leu673=
• NP_001372042.1:p.Leu706=
• NP_001372043.1:p.Leu699=
• NP_001372044.1:p.Leu692=
• NP_005410.1:p.Leu706=
• NP_938146.1:p.Leu702=
• LRG_1329t1:c.2116C>T
• LRG_1329:g.21132C>T
• LRG_1329p1:p.Leu706=
• NC_000012.11:g.56737906G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs144878478

NCBI 1000 Genomes Browser:

rs144878478

Molecular consequence:

• NM_001385110.1:c.2083C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385111.1:c.2017C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385113.1:c.2116C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385114.1:c.2095C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385115.1:c.2074C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005419.4:c.2116C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198332.2:c.2104C>T - synonymous variant - [Sequence Ontology: SO:0001819]