ClinVar

NM_207122.2(EXT2):c.1495+137G>A

Genes:

LOC126861201:MED14-independent group 3 enhancer GRCh37_chr11:44218806-44220005 [Gene]
EXT2:exostosin glycosyltransferase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

• Chr11: 44198155 (on Assembly GRCh38)
• Chr11: 44219705 (on Assembly GRCh37)

Preferred name:

NM_207122.2(EXT2):c.1495+137G>A

HGVS:

• NC_000011.10:g.44198155G>A
• NG_007560.1:g.107607G>A
• NM_000401.3:c.1594+137G>A
• NM_001178083.3:c.1525+137G>A
• NM_001389628.1:c.1495+137G>A
• NM_001389630.1:c.1495+137G>A
• NM_207122.2:c.1495+137G>AMANE SELECT
• LRG_494t1:c.1594+137G>A
• LRG_494:g.107607G>A
• NC_000011.9:g.44219705G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs75342726

NCBI 1000 Genomes Browser:

rs75342726

Molecular consequence:

• NM_000401.3:c.1594+137G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001178083.3:c.1525+137G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001389628.1:c.1495+137G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001389630.1:c.1495+137G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_207122.2:c.1495+137G>A - intron variant - [Sequence Ontology: SO:0001627]