ClinVar

NM_005419.4(STAT2):c.2536T>C (p.Leu846=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.3

Genomic location:

• Chr12: 56343409 (on Assembly GRCh38)
• Chr12: 56737193 (on Assembly GRCh37)

Preferred name:

NM_005419.4(STAT2):c.2536T>C (p.Leu846=)

HGVS:

• NC_000012.12:g.56343409A>G
• NG_046314.1:g.21845T>C
• NM_001385110.1:c.2503T>C
• NM_001385111.1:c.2437T>C
• NM_001385113.1:c.*105T>C
• NM_001385114.1:c.2515T>C
• NM_001385115.1:c.2494T>C
• NM_005419.3:c.2536T>C
• NM_005419.4:c.2536T>CMANE SELECT
• NM_198332.2:c.2524T>C
• NP_001372039.1:p.Leu835=
• NP_001372040.1:p.Leu813=
• NP_001372043.1:p.Leu839=
• NP_001372044.1:p.Leu832=
• NP_005410.1:p.Leu846=
• NP_938146.1:p.Leu842=
• LRG_1329t1:c.2536T>C
• LRG_1329:g.21845T>C
• LRG_1329p1:p.Leu846=
• NC_000012.11:g.56737193A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs760480590

NCBI 1000 Genomes Browser:

rs760480590

Molecular consequence:

• NM_001385113.1:c.*105T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001385110.1:c.2503T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385111.1:c.2437T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385114.1:c.2515T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385115.1:c.2494T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005419.4:c.2536T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198332.2:c.2524T>C - synonymous variant - [Sequence Ontology: SO:0001819]