ClinVar

NM_005419.4(STAT2):c.1301C>G (p.Thr434Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.3

Genomic location:

• Chr12: 56349466 (on Assembly GRCh38)
• Chr12: 56743250 (on Assembly GRCh37)

Preferred name:

NM_005419.4(STAT2):c.1301C>G (p.Thr434Arg)

HGVS:

• NC_000012.12:g.56349466G>C
• NG_046314.1:g.15788C>G
• NM_001385110.1:c.1268C>G
• NM_001385111.1:c.1301C>G
• NM_001385113.1:c.1301C>G
• NM_001385114.1:c.1280C>G
• NM_001385115.1:c.1289C>G
• NM_005419.4:c.1301C>GMANE SELECT
• NM_198332.2:c.1289C>G
• NP_001372039.1:p.Thr423Arg
• NP_001372040.1:p.Thr434Arg
• NP_001372042.1:p.Thr434Arg
• NP_001372043.1:p.Thr427Arg
• NP_001372044.1:p.Thr430Arg
• NP_005410.1:p.Thr434Arg
• NP_938146.1:p.Thr430Arg
• LRG_1329t1:c.1301C>G
• LRG_1329:g.15788C>G
• LRG_1329p1:p.Thr434Arg
• NC_000012.11:g.56743250G>C

This HGVS expression did not pass validation

Protein change:

T423R

Molecular consequence:

• NM_001385110.1:c.1268C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385111.1:c.1301C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385113.1:c.1301C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385114.1:c.1280C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385115.1:c.1289C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_005419.4:c.1301C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_198332.2:c.1289C>G - missense variant - [Sequence Ontology: SO:0001583]