ClinVar

NM_003242.6(TGFBR2):c.1014G>A (p.Thr338=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p24.1

Genomic location:

• Chr3: 30672197 (on Assembly GRCh38)
• Chr3: 30713689 (on Assembly GRCh37)

Preferred name:

NM_003242.6(TGFBR2):c.1014G>A (p.Thr338=)

HGVS:

• NC_000003.12:g.30672197G>A
• NG_007490.1:g.70696G>A
• NM_001024847.3:c.1089G>A
• NM_001407126.1:c.1197G>A
• NM_001407127.1:c.1122G>A
• NM_001407128.1:c.1041G>A
• NM_001407129.1:c.1017G>A
• NM_001407130.1:c.1014G>A
• NM_001407132.1:c.909G>A
• NM_001407133.1:c.909G>A
• NM_001407134.1:c.909G>A
• NM_001407135.1:c.909G>A
• NM_001407136.1:c.909G>A
• NM_001407137.1:c.729G>A
• NM_001407138.1:c.654G>A
• NM_001407139.1:c.530-16190G>A
• NM_003242.6:c.1014G>AMANE SELECT
• NP_001020018.1:p.Thr363=
• NP_001020018.1:p.Thr363=
• NP_001394055.1:p.Thr399=
• NP_001394056.1:p.Thr374=
• NP_001394057.1:p.Thr347=
• NP_001394058.1:p.Thr339=
• NP_001394059.1:p.Thr338=
• NP_001394061.1:p.Thr303=
• NP_001394062.1:p.Thr303=
• NP_001394063.1:p.Thr303=
• NP_001394064.1:p.Thr303=
• NP_001394065.1:p.Thr303=
• NP_001394066.1:p.Thr243=
• NP_001394067.1:p.Thr218=
• NP_003233.4:p.Thr338=
• LRG_779t1:c.1089G>A
• LRG_779t2:c.1014G>A
• LRG_779:g.70696G>A
• LRG_779p1:p.Thr363=
• LRG_779p2:p.Thr338=
• NC_000003.11:g.30713689G>A
• NM_001024847.2:c.1089G>A
• NM_003242.5:c.1014G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs764720370

NCBI 1000 Genomes Browser:

rs764720370

Molecular consequence:

• NM_001407139.1:c.530-16190G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001024847.3:c.1089G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407126.1:c.1197G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407127.1:c.1122G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407128.1:c.1041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407129.1:c.1017G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407130.1:c.1014G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407132.1:c.909G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407133.1:c.909G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407134.1:c.909G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407135.1:c.909G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407136.1:c.909G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407137.1:c.729G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407138.1:c.654G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003242.6:c.1014G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1