ClinVar

NM_207122.2(EXT2):c.219C>T (p.Ala73=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

• Chr11: 44107931 (on Assembly GRCh38)
• Chr11: 44129481 (on Assembly GRCh37)

Preferred name:

NM_207122.2(EXT2):c.219C>T (p.Ala73=)

HGVS:

• NC_000011.10:g.44107931C>T
• NG_007560.1:g.17383C>T
• NM_000401.3:c.318C>T
• NM_001178083.3:c.219C>T
• NM_001389628.1:c.219C>T
• NM_001389630.1:c.219C>T
• NM_207122.2:c.219C>TMANE SELECT
• NP_000392.3:p.Ala106=
• NP_001171554.1:p.Ala73=
• NP_001376557.1:p.Ala73=
• NP_001376559.1:p.Ala73=
• NP_997005.1:p.Ala73=
• LRG_494t1:c.318C>T
• LRG_494:g.17383C>T
• LRG_494p1:p.Ala106=
• NC_000011.9:g.44129481C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs774620075

NCBI 1000 Genomes Browser:

rs774620075

Molecular consequence:

• NM_000401.3:c.318C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001178083.3:c.219C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001389628.1:c.219C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001389630.1:c.219C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_207122.2:c.219C>T - synonymous variant - [Sequence Ontology: SO:0001819]