ClinVar

NM_003242.6(TGFBR2):c.696C>T (p.Ala232=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p24.1

Genomic location:

• Chr3: 30671879 (on Assembly GRCh38)
• Chr3: 30713371 (on Assembly GRCh37)

Preferred name:

NM_003242.6(TGFBR2):c.696C>T (p.Ala232=)

HGVS:

• NC_000003.12:g.30671879C>T
• NG_007490.1:g.70378C>T
• NM_001024847.3:c.771C>T
• NM_001407126.1:c.879C>T
• NM_001407127.1:c.804C>T
• NM_001407128.1:c.723C>T
• NM_001407129.1:c.699C>T
• NM_001407130.1:c.696C>T
• NM_001407132.1:c.591C>T
• NM_001407133.1:c.591C>T
• NM_001407134.1:c.591C>T
• NM_001407135.1:c.591C>T
• NM_001407136.1:c.591C>T
• NM_001407137.1:c.411C>T
• NM_001407138.1:c.336C>T
• NM_001407139.1:c.530-16508C>T
• NM_003242.6:c.696C>TMANE SELECT
• NP_001020018.1:p.Ala257=
• NP_001020018.1:p.Ala257=
• NP_001394055.1:p.Ala293=
• NP_001394056.1:p.Ala268=
• NP_001394057.1:p.Ala241=
• NP_001394058.1:p.Ala233=
• NP_001394059.1:p.Ala232=
• NP_001394061.1:p.Ala197=
• NP_001394062.1:p.Ala197=
• NP_001394063.1:p.Ala197=
• NP_001394064.1:p.Ala197=
• NP_001394065.1:p.Ala197=
• NP_001394066.1:p.Ala137=
• NP_001394067.1:p.Ala112=
• NP_003233.4:p.Ala232=
• LRG_779t1:c.771C>T
• LRG_779t2:c.696C>T
• LRG_779:g.70378C>T
• LRG_779p1:p.Ala257=
• LRG_779p2:p.Ala232=
• NC_000003.11:g.30713371C>T
• NM_001024847.2:c.771C>T
• NM_003242.5:c.696C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs768508812

NCBI 1000 Genomes Browser:

rs768508812

Molecular consequence:

• NM_001407139.1:c.530-16508C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001024847.3:c.771C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407126.1:c.879C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407127.1:c.804C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407128.1:c.723C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407129.1:c.699C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407130.1:c.696C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407132.1:c.591C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407133.1:c.591C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407134.1:c.591C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407135.1:c.591C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407136.1:c.591C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407137.1:c.411C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407138.1:c.336C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003242.6:c.696C>T - synonymous variant - [Sequence Ontology: SO:0001819]