ClinVar

NM_005419.4(STAT2):c.2250G>A (p.Glu750=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.3

Genomic location:

• Chr12: 56343988 (on Assembly GRCh38)
• Chr12: 56737772 (on Assembly GRCh37)

Preferred name:

NM_005419.4(STAT2):c.2250G>A (p.Glu750=)

HGVS:

• NC_000012.12:g.56343988C>T
• NG_046314.1:g.21266G>A
• NM_001385110.1:c.2217G>A
• NM_001385111.1:c.2151G>A
• NM_001385113.1:c.2250G>A
• NM_001385114.1:c.2229G>A
• NM_001385115.1:c.2208G>A
• NM_005419.4:c.2250G>AMANE SELECT
• NM_198332.2:c.2238G>A
• NP_001372039.1:p.Glu739=
• NP_001372040.1:p.Glu717=
• NP_001372042.1:p.Glu750=
• NP_001372043.1:p.Glu743=
• NP_001372044.1:p.Glu736=
• NP_005410.1:p.Glu750=
• NP_938146.1:p.Glu746=
• LRG_1329t1:c.2250G>A
• LRG_1329:g.21266G>A
• LRG_1329p1:p.Glu750=
• NC_000012.11:g.56737772C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001385110.1:c.2217G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385111.1:c.2151G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385113.1:c.2250G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385114.1:c.2229G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385115.1:c.2208G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005419.4:c.2250G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198332.2:c.2238G>A - synonymous variant - [Sequence Ontology: SO:0001819]