ClinVar

NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p24.1

Genomic location:

• Chr3: 30606887 (on Assembly GRCh38)
• Chr3: 30648379 (on Assembly GRCh37)

Preferred name:

NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys)

HGVS:

• NC_000003.12:g.30606887G>T
• NG_007490.1:g.5386G>T
• NM_001024847.3:c.4G>T
• NM_001407126.1:c.4G>T
• NM_001407127.1:c.4G>T
• NM_001407130.1:c.4G>T
• NM_001407133.1:c.-280G>T
• NM_001407134.1:c.-158G>T
• NM_001407135.1:c.-205G>T
• NM_001407136.1:c.-290G>T
• NM_001407137.1:c.4G>T
• NM_001407138.1:c.4G>T
• NM_001407139.1:c.4G>T
• NM_003242.6:c.4G>TMANE SELECT
• NP_001020018.1:p.Gly2Cys
• NP_001020018.1:p.Gly2Cys
• NP_001394055.1:p.Gly2Cys
• NP_001394056.1:p.Gly2Cys
• NP_001394059.1:p.Gly2Cys
• NP_001394066.1:p.Gly2Cys
• NP_001394067.1:p.Gly2Cys
• NP_001394068.1:p.Gly2Cys
• NP_003233.4:p.Gly2Cys
• LRG_779t1:c.4G>T
• LRG_779t2:c.4G>T
• LRG_779:g.5386G>T
• LRG_779p1:p.Gly2Cys
• LRG_779p2:p.Gly2Cys
• NC_000003.11:g.30648379G>T
• NM_001024847.2:c.4G>T
• NM_003242.5:c.4G>T

This HGVS expression did not pass validation

Protein change:

G2C

Links:

dbSNP: rs565502802

NCBI 1000 Genomes Browser:

rs565502802

Molecular consequence:

• NM_001024847.3:c.4G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407126.1:c.4G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407127.1:c.4G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407130.1:c.4G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407137.1:c.4G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407138.1:c.4G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407139.1:c.4G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003242.6:c.4G>T - missense variant - [Sequence Ontology: SO:0001583]