ClinVar

NM_003242.6(TGFBR2):c.1A>G (p.Met1Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p24.1

Genomic location:

• Chr3: 30606884 (on Assembly GRCh38)
• Chr3: 30648376 (on Assembly GRCh37)

Preferred name:

NM_003242.6(TGFBR2):c.1A>G (p.Met1Val)

HGVS:

• NC_000003.12:g.30606884A>G
• NG_007490.1:g.5383A>G
• NM_001024847.3:c.1A>G
• NM_001407126.1:c.1A>G
• NM_001407127.1:c.1A>G
• NM_001407130.1:c.1A>G
• NM_001407133.1:c.-283A>G
• NM_001407134.1:c.-161A>G
• NM_001407135.1:c.-208A>G
• NM_001407136.1:c.-293A>G
• NM_001407137.1:c.1A>G
• NM_001407138.1:c.1A>G
• NM_001407139.1:c.1A>G
• NM_003242.6:c.1A>GMANE SELECT
• NP_001020018.1:p.Met1Val
• NP_001020018.1:p.Met1Val
• NP_001394055.1:p.Met1Val
• NP_001394056.1:p.Met1Val
• NP_001394059.1:p.Met1Val
• NP_001394066.1:p.Met1Val
• NP_001394067.1:p.Met1Val
• NP_001394068.1:p.Met1Val
• NP_003233.4:p.Met1Val
• LRG_779t1:c.1A>G
• LRG_779t2:c.1A>G
• LRG_779:g.5383A>G
• LRG_779p1:p.Met1Val
• LRG_779p2:p.Met1Val
• NC_000003.11:g.30648376A>G
• NM_001024847.2:c.1A>G
• NM_003242.5:c.1A>G

This HGVS expression did not pass validation

Protein change:

M1V

Links:

dbSNP: rs933114782

NCBI 1000 Genomes Browser:

rs933114782

Molecular consequence:

• NM_003242.6:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001024847.3:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407126.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407127.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407130.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407137.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407138.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407139.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_003242.6:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]