ClinVar

NM_005419.4(STAT2):c.2152C>T (p.Leu718=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.3

Genomic location:

• Chr12: 56344086 (on Assembly GRCh38)
• Chr12: 56737870 (on Assembly GRCh37)

Preferred name:

NM_005419.4(STAT2):c.2152C>T (p.Leu718=)

HGVS:

• NC_000012.12:g.56344086G>A
• NG_046314.1:g.21168C>T
• NM_001385110.1:c.2119C>T
• NM_001385111.1:c.2053C>T
• NM_001385113.1:c.2152C>T
• NM_001385114.1:c.2131C>T
• NM_001385115.1:c.2110C>T
• NM_005419.4:c.2152C>TMANE SELECT
• NM_198332.2:c.2140C>T
• NP_001372039.1:p.Leu707=
• NP_001372040.1:p.Leu685=
• NP_001372042.1:p.Leu718=
• NP_001372043.1:p.Leu711=
• NP_001372044.1:p.Leu704=
• NP_005410.1:p.Leu718=
• NP_938146.1:p.Leu714=
• LRG_1329t1:c.2152C>T
• LRG_1329:g.21168C>T
• LRG_1329p1:p.Leu718=
• NC_000012.11:g.56737870G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs750452354

NCBI 1000 Genomes Browser:

rs750452354

Molecular consequence:

• NM_001385110.1:c.2119C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385111.1:c.2053C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385113.1:c.2152C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385114.1:c.2131C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385115.1:c.2110C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005419.4:c.2152C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198332.2:c.2140C>T - synonymous variant - [Sequence Ontology: SO:0001819]