ClinVar

NM_003242.6(TGFBR2):c.690G>A (p.Thr230=)

Gene:

TGFBR2:transforming growth factor beta receptor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p24.1

Genomic location:

• Chr3: 30671873 (on Assembly GRCh38)
• Chr3: 30713365 (on Assembly GRCh37)

Preferred name:

NM_003242.6(TGFBR2):c.690G>A (p.Thr230=)

HGVS:

• NC_000003.12:g.30671873G>A
• NG_007490.1:g.70372G>A
• NM_001024847.3:c.765G>A
• NM_001407126.1:c.873G>A
• NM_001407127.1:c.798G>A
• NM_001407128.1:c.717G>A
• NM_001407129.1:c.693G>A
• NM_001407130.1:c.690G>A
• NM_001407132.1:c.585G>A
• NM_001407133.1:c.585G>A
• NM_001407134.1:c.585G>A
• NM_001407135.1:c.585G>A
• NM_001407136.1:c.585G>A
• NM_001407137.1:c.405G>A
• NM_001407138.1:c.330G>A
• NM_001407139.1:c.530-16514G>A
• NM_003242.6:c.690G>AMANE SELECT
• NP_001020018.1:p.Thr255=
• NP_001020018.1:p.Thr255=
• NP_001394055.1:p.Thr291=
• NP_001394056.1:p.Thr266=
• NP_001394057.1:p.Thr239=
• NP_001394058.1:p.Thr231=
• NP_001394059.1:p.Thr230=
• NP_001394061.1:p.Thr195=
• NP_001394062.1:p.Thr195=
• NP_001394063.1:p.Thr195=
• NP_001394064.1:p.Thr195=
• NP_001394065.1:p.Thr195=
• NP_001394066.1:p.Thr135=
• NP_001394067.1:p.Thr110=
• NP_003233.4:p.Thr230=
• LRG_779t1:c.765G>A
• LRG_779t2:c.690G>A
• LRG_779:g.70372G>A
• LRG_779p1:p.Thr255=
• LRG_779p2:p.Thr230=
• NC_000003.11:g.30713365G>A
• NM_001024847.2:c.765G>A
• NM_003242.5:c.690G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs201560560

NCBI 1000 Genomes Browser:

rs201560560

Molecular consequence:

• NM_001407139.1:c.530-16514G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001024847.3:c.765G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407126.1:c.873G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407127.1:c.798G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407128.1:c.717G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407129.1:c.693G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407130.1:c.690G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407132.1:c.585G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407133.1:c.585G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407134.1:c.585G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407135.1:c.585G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407136.1:c.585G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407137.1:c.405G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407138.1:c.330G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003242.6:c.690G>A - synonymous variant - [Sequence Ontology: SO:0001819]