ClinVar

NM_207122.2(EXT2):c.423C>T (p.Asp141=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

• Chr11: 44108135 (on Assembly GRCh38)
• Chr11: 44129685 (on Assembly GRCh37)

Preferred name:

NM_207122.2(EXT2):c.423C>T (p.Asp141=)

HGVS:

• NC_000011.10:g.44108135C>T
• NG_007560.1:g.17587C>T
• NM_000401.3:c.522C>T
• NM_001178083.3:c.423C>T
• NM_001389628.1:c.423C>T
• NM_001389630.1:c.423C>T
• NM_207122.2:c.423C>TMANE SELECT
• NP_000392.3:p.Asp174=
• NP_001171554.1:p.Asp141=
• NP_001376557.1:p.Asp141=
• NP_001376559.1:p.Asp141=
• NP_997005.1:p.Asp141=
• LRG_494t1:c.522C>T
• LRG_494t2:c.423C>T
• LRG_494:g.17587C>T
• LRG_494p1:p.Asp174=
• NC_000011.9:g.44129685C>T
• NM_207122.1:c.423C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs199916419

NCBI 1000 Genomes Browser:

rs199916419

Molecular consequence:

• NM_000401.3:c.522C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001178083.3:c.423C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001389628.1:c.423C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001389630.1:c.423C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_207122.2:c.423C>T - synonymous variant - [Sequence Ontology: SO:0001819]