ClinVar

NM_207122.2(EXT2):c.996C>T (p.Ser332=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

• Chr11: 44126872 (on Assembly GRCh38)
• Chr11: 44148422 (on Assembly GRCh37)

Preferred name:

NM_207122.2(EXT2):c.996C>T (p.Ser332=)

HGVS:

• NC_000011.10:g.44126872C>T
• NG_007560.1:g.36324C>T
• NM_000401.3:c.1095C>T
• NM_001178083.3:c.996C>T
• NM_001389628.1:c.996C>T
• NM_001389630.1:c.996C>T
• NM_207122.2:c.996C>TMANE SELECT
• NP_000392.3:p.Ser365=
• NP_001171554.1:p.Ser332=
• NP_001376557.1:p.Ser332=
• NP_001376559.1:p.Ser332=
• NP_997005.1:p.Ser332=
• LRG_494t1:c.1095C>T
• LRG_494:g.36324C>T
• LRG_494p1:p.Ser365=
• NC_000011.9:g.44148422C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs142692757

NCBI 1000 Genomes Browser:

rs142692757

Molecular consequence:

• NM_000401.3:c.1095C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001178083.3:c.996C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001389628.1:c.996C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001389630.1:c.996C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_207122.2:c.996C>T - synonymous variant - [Sequence Ontology: SO:0001819]