ClinVar

NM_207122.2(EXT2):c.939+30G>A

Gene:

EXT2:exostosin glycosyltransferase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

• Chr11: 44125014 (on Assembly GRCh38)
• Chr11: 44146564 (on Assembly GRCh37)

Preferred name:

NM_207122.2(EXT2):c.939+30G>A

HGVS:

• NC_000011.10:g.44125014G>A
• NG_007560.1:g.34466G>A
• NM_000401.3:c.1038+30G>A
• NM_001178083.3:c.939+30G>A
• NM_001389628.1:c.939+30G>A
• NM_001389630.1:c.939+30G>A
• NM_207122.2:c.939+30G>AMANE SELECT
• LRG_494t1:c.1038+30G>A
• LRG_494:g.34466G>A
• NC_000011.9:g.44146564G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs77931461

NCBI 1000 Genomes Browser:

rs77931461

Molecular consequence:

• NM_000401.3:c.1038+30G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001178083.3:c.939+30G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001389628.1:c.939+30G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001389630.1:c.939+30G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_207122.2:c.939+30G>A - intron variant - [Sequence Ontology: SO:0001627]