ClinVar

NM_194356.4(STX2):c.205+9T>C

Gene:

STX2:syntaxin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.33

Genomic location:

• Chr12: 130821680 (on Assembly GRCh38)
• Chr12: 131306225 (on Assembly GRCh37)

Preferred name:

NM_194356.4(STX2):c.205+9T>C

HGVS:

• NC_000012.12:g.130821680A>G
• NM_001351049.2:c.205+9T>C
• NM_001351050.2:c.205+9T>C
• NM_001351051.2:c.-174+9T>C
• NM_001351052.2:c.-317+9T>C
• NM_001980.5:c.205+9T>C
• NM_194356.4:c.205+9T>CMANE SELECT
• NC_000012.11:g.131306225A>G
• NM_194356.2:c.205+9T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs148619251

NCBI 1000 Genomes Browser:

rs148619251

Molecular consequence:

• NM_001351049.2:c.205+9T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351050.2:c.205+9T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351051.2:c.-174+9T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351052.2:c.-317+9T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001980.5:c.205+9T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_194356.4:c.205+9T>C - intron variant - [Sequence Ontology: SO:0001627]