ClinVar

NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

• Chr11: 44126898 (on Assembly GRCh38)
• Chr11: 44148448 (on Assembly GRCh37)

Preferred name:

NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu)

HGVS:

• NC_000011.10:g.44126898C>T
• NG_007560.1:g.36350C>T
• NM_000401.3:c.1121C>T
• NM_001178083.3:c.1022C>T
• NM_001389628.1:c.1022C>T
• NM_001389630.1:c.1022C>T
• NM_207122.2:c.1022C>TMANE SELECT
• NP_000392.3:p.Pro374Leu
• NP_001171554.1:p.Pro341Leu
• NP_001376557.1:p.Pro341Leu
• NP_001376559.1:p.Pro341Leu
• NP_997005.1:p.Pro341Leu
• NP_997005.1:p.Pro341Leu
• LRG_494t1:c.1121C>T
• LRG_494t2:c.1022C>T
• LRG_494:g.36350C>T
• LRG_494p1:p.Pro374Leu
• LRG_494p2:p.Pro341Leu
• NC_000011.9:g.44148448C>T
• NM_207122.1:c.1022C>T

This HGVS expression did not pass validation

Protein change:

P341L

Links:

dbSNP: rs141035971

NCBI 1000 Genomes Browser:

rs141035971

Molecular consequence:

• NM_000401.3:c.1121C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001178083.3:c.1022C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001389628.1:c.1022C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001389630.1:c.1022C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_207122.2:c.1022C>T - missense variant - [Sequence Ontology: SO:0001583]