ClinVar

NM_207122.2(EXT2):c.519G>A (p.Ala173=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

• Chr11: 44108231 (on Assembly GRCh38)
• Chr11: 44129781 (on Assembly GRCh37)

Preferred name:

NM_207122.2(EXT2):c.519G>A (p.Ala173=)

HGVS:

• NC_000011.10:g.44108231G>A
• NG_007560.1:g.17683G>A
• NM_000401.3:c.618G>A
• NM_001178083.3:c.519G>A
• NM_001389628.1:c.519G>A
• NM_001389630.1:c.519G>A
• NM_207122.2:c.519G>AMANE SELECT
• NP_000392.3:p.Ala206=
• NP_001171554.1:p.Ala173=
• NP_001376557.1:p.Ala173=
• NP_001376559.1:p.Ala173=
• NP_997005.1:p.Ala173=
• NP_997005.1:p.Ala173=
• LRG_494t1:c.618G>A
• LRG_494t2:c.519G>A
• LRG_494:g.17683G>A
• LRG_494p1:p.Ala206=
• LRG_494p2:p.Ala173=
• NC_000011.9:g.44129781G>A
• NM_207122.1:c.519G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000401.3:c.618G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001178083.3:c.519G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001389628.1:c.519G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001389630.1:c.519G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_207122.2:c.519G>A - synonymous variant - [Sequence Ontology: SO:0001819]