ClinVar

NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p24.1

Genomic location:

• Chr3: 30674116 (on Assembly GRCh38)
• Chr3: 30715608 (on Assembly GRCh37)

Preferred name:

NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=)

Other names:

p.A422A:GCA>GCG

HGVS:

• NC_000003.12:g.30674116A>G
• NG_007490.1:g.72615A>G
• NM_001024847.3:c.1341A>G
• NM_001407126.1:c.1449A>G
• NM_001407127.1:c.1374A>G
• NM_001407128.1:c.1293A>G
• NM_001407129.1:c.1269A>G
• NM_001407130.1:c.1266A>G
• NM_001407132.1:c.1161A>G
• NM_001407133.1:c.1161A>G
• NM_001407134.1:c.1161A>G
• NM_001407135.1:c.1161A>G
• NM_001407136.1:c.1161A>G
• NM_001407137.1:c.981A>G
• NM_001407138.1:c.906A>G
• NM_001407139.1:c.530-14271A>G
• NM_003242.6:c.1266A>GMANE SELECT
• NP_001020018.1:p.Ala447=
• NP_001020018.1:p.Ala447=
• NP_001394055.1:p.Ala483=
• NP_001394056.1:p.Ala458=
• NP_001394057.1:p.Ala431=
• NP_001394058.1:p.Ala423=
• NP_001394059.1:p.Ala422=
• NP_001394061.1:p.Ala387=
• NP_001394062.1:p.Ala387=
• NP_001394063.1:p.Ala387=
• NP_001394064.1:p.Ala387=
• NP_001394065.1:p.Ala387=
• NP_001394066.1:p.Ala327=
• NP_001394067.1:p.Ala302=
• NP_003233.4:p.Ala422=
• LRG_779t1:c.1341A>G
• LRG_779t2:c.1266A>G
• LRG_779:g.72615A>G
• LRG_779p1:p.Ala447=
• LRG_779p2:p.Ala422=
• NC_000003.11:g.30715608A>G
• NM_001024847.2:c.1341A>G
• NM_003242.5:c.1266A>G
• c.1266A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs2228047

NCBI 1000 Genomes Browser:

rs2228047

Molecular consequence:

• NM_001407139.1:c.530-14271A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001024847.3:c.1341A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407126.1:c.1449A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407127.1:c.1374A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407128.1:c.1293A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407129.1:c.1269A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407130.1:c.1266A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407132.1:c.1161A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407133.1:c.1161A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407134.1:c.1161A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407135.1:c.1161A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407136.1:c.1161A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407137.1:c.981A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407138.1:c.906A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003242.6:c.1266A>G - synonymous variant - [Sequence Ontology: SO:0001819]