ClinVar

NM_003242.6(TGFBR2):c.-193G>A

Genes:

LOC129936399:ATAC-STARR-seq lymphoblastoid silent region 14158 [Gene]
TGFBR2:transforming growth factor beta receptor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p24.1

Genomic location:

• Chr3: 30606691 (on Assembly GRCh38)
• Chr3: 30648183 (on Assembly GRCh37)

Preferred name:

NM_003242.6(TGFBR2):c.-193G>A

HGVS:

• NC_000003.12:g.30606691G>A
• NG_007490.1:g.5190G>A
• NM_001024847.3:c.-193G>A
• NM_001407126.1:c.-193G>A
• NM_001407127.1:c.-193G>A
• NM_001407130.1:c.-193G>A
• NM_001407133.1:c.-476G>A
• NM_001407134.1:c.-354G>A
• NM_001407135.1:c.-401G>A
• NM_001407136.1:c.-486G>A
• NM_001407137.1:c.-193G>A
• NM_001407138.1:c.-193G>A
• NM_001407139.1:c.-193G>A
• NM_003242.6:c.-193G>AMANE SELECT
• LRG_779t1:c.-193G>A
• LRG_779t2:c.-193G>A
• LRG_779:g.5190G>A
• NC_000003.11:g.30648183G>A
• NM_001024847.2:c.-193G>A
• NM_003242.5:c.-193G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs886058301

NCBI 1000 Genomes Browser:

rs886058301

Molecular consequence:

• NM_003242.6:c.-193G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]