ClinVar

NM_207122.2(EXT2):c.417C>T (p.Asp139=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

• Chr11: 44108129 (on Assembly GRCh38)
• Chr11: 44129679 (on Assembly GRCh37)

Preferred name:

NM_207122.2(EXT2):c.417C>T (p.Asp139=)

HGVS:

• NC_000011.10:g.44108129C>T
• NG_007560.1:g.17581C>T
• NM_000401.3:c.516C>T
• NM_001178083.3:c.417C>T
• NM_001389628.1:c.417C>T
• NM_001389630.1:c.417C>T
• NM_207122.2:c.417C>TMANE SELECT
• NP_000392.3:p.Asp172=
• NP_001171554.1:p.Asp139=
• NP_001376557.1:p.Asp139=
• NP_001376559.1:p.Asp139=
• NP_997005.1:p.Asp139=
• NP_997005.1:p.Asp139=
• LRG_494t1:c.516C>T
• LRG_494t2:c.417C>T
• LRG_494:g.17581C>T
• LRG_494p1:p.Asp172=
• LRG_494p2:p.Asp139=
• NC_000011.9:g.44129679C>T
• NM_207122.1:c.417C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000401.3:c.516C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001178083.3:c.417C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001389628.1:c.417C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001389630.1:c.417C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_207122.2:c.417C>T - synonymous variant - [Sequence Ontology: SO:0001819]