ClinVar

NM_006440.5(TXNRD2):c.918G>A (p.Thr306=)

Gene:

TXNRD2:thioredoxin reductase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.21

Genomic location:

• Chr22: 19895438 (on Assembly GRCh38)
• Chr22: 19882961 (on Assembly GRCh37)

Preferred name:

NM_006440.5(TXNRD2):c.918G>A (p.Thr306=)

HGVS:

• NC_000022.11:g.19895438C>T
• NG_011835.1:g.51399G>A
• NM_001282512.3:c.918G>A
• NM_001352300.2:c.915G>A
• NM_001352301.2:c.828G>A
• NM_001352302.2:c.630G>A
• NM_001352303.2:c.822G>A
• NM_006440.5:c.918G>AMANE SELECT
• NP_001269441.1:p.Thr306=
• NP_001339229.1:p.Thr305=
• NP_001339230.1:p.Thr276=
• NP_001339231.1:p.Thr210=
• NP_001339232.1:p.Thr274=
• NP_006431.2:p.Thr306=
• LRG_417t1:c.918G>A
• LRG_417:g.51399G>A
• NC_000022.10:g.19882961C>T
• NM_006440.3:c.918G>A
• NR_147957.2:n.876G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs763086193

NCBI 1000 Genomes Browser:

rs763086193

Molecular consequence:

• NR_147957.2:n.876G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001282512.3:c.918G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352300.2:c.915G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352301.2:c.828G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352302.2:c.630G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352303.2:c.822G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006440.5:c.918G>A - synonymous variant - [Sequence Ontology: SO:0001819]