ClinVar

NM_207122.2(EXT2):c.444C>T (p.Asn148=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

• Chr11: 44108156 (on Assembly GRCh38)
• Chr11: 44129706 (on Assembly GRCh37)

Preferred name:

NM_207122.2(EXT2):c.444C>T (p.Asn148=)

HGVS:

• NC_000011.10:g.44108156C>T
• NG_007560.1:g.17608C>T
• NM_000401.3:c.543C>T
• NM_001178083.3:c.444C>T
• NM_207122.2:c.444C>TMANE SELECT
• NP_000392.3:p.Asn181=
• NP_001171554.1:p.Asn148=
• NP_997005.1:p.Asn148=
• LRG_494t1:c.543C>T
• LRG_494:g.17608C>T
• LRG_494p1:p.Asn181=
• NC_000011.9:g.44129706C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs145884580

NCBI 1000 Genomes Browser:

rs145884580

Molecular consequence:

• NM_000401.3:c.543C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001178083.3:c.444C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_207122.2:c.444C>T - synonymous variant - [Sequence Ontology: SO:0001819]