ClinVar

NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp)

Gene:

COL11A2:collagen type XI alpha 2 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.32

Genomic location:

• Chr6: 33186737 (on Assembly GRCh38)
• Chr6: 33154514 (on Assembly GRCh37)

Preferred name:

NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp)

HGVS:

• NC_000006.12:g.33186737C>A
• NG_011589.1:g.10732G>T
• NM_001163771.2:c.688G>T
• NM_080679.3:c.688G>T
• NM_080680.3:c.688G>TMANE SELECT
• NM_080681.3:c.688G>T
• NP_001157243.1:p.Gly230Trp
• NP_542410.2:p.Gly230Trp
• NP_542411.2:p.Gly230Trp
• NP_542411.2:p.Gly230Trp
• NP_542412.2:p.Gly230Trp
• NC_000006.11:g.33154514C>A
• NM_001163771.1:c.688G>T
• NM_080680.2:c.688G>T

This HGVS expression did not pass validation

Protein change:

G230W

Links:

dbSNP: rs141430703

NCBI 1000 Genomes Browser:

rs141430703

Molecular consequence:

• NM_001163771.2:c.688G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_080679.3:c.688G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_080680.3:c.688G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_080681.3:c.688G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2