ClinVar

NM_003242.6(TGFBR2):c.94+16245G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p24.1

Genomic location:

• Chr3: 30623222 (on Assembly GRCh38)
• Chr3: 30664714 (on Assembly GRCh37)

Preferred name:

NM_003242.6(TGFBR2):c.94+16245G>A

HGVS:

• NC_000003.12:g.30623222G>A
• NG_007490.1:g.21721G>A
• NM_001024847.3:c.118G>A
• NM_001407126.1:c.118G>A
• NM_001407128.1:c.70G>A
• NM_001407133.1:c.-166G>A
• NM_001407136.1:c.-176G>A
• NM_001407137.1:c.118G>A
• NM_001407139.1:c.118G>A
• NM_003242.6:c.94+16245G>AMANE SELECT
• NP_001020018.1:p.Asp40Asn
• NP_001020018.1:p.Asp40Asn
• NP_001394055.1:p.Asp40Asn
• NP_001394057.1:p.Asp24Asn
• NP_001394066.1:p.Asp40Asn
• NP_001394068.1:p.Asp40Asn
• LRG_779t1:c.118G>A
• LRG_779t2:c.94+16245G>A
• LRG_779:g.21721G>A
• LRG_779p1:p.Asp40Asn
• NC_000003.11:g.30664714G>A
• NM_001024847.2:c.118G>A
• NM_003242.5:c.94+16245G>A

This HGVS expression did not pass validation

Protein change:

D24N

Links:

dbSNP: rs61732532

NCBI 1000 Genomes Browser:

rs61732532

Molecular consequence:

• NM_003242.6:c.94+16245G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001024847.3:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407126.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407128.1:c.70G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407137.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407139.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

6