ClinVar

NM_080680.3(COL11A2):c.3174G>A (p.Pro1058=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.32

Genomic location:

• Chr6: 33171551 (on Assembly GRCh38)
• Chr6: 33139328 (on Assembly GRCh37)

Preferred name:

NM_080680.3(COL11A2):c.3174G>A (p.Pro1058=)

HGVS:

• NC_000006.12:g.33171551C>T
• NG_011589.1:g.25918G>A
• NM_080679.3:c.2853G>A
• NM_080680.3:c.3174G>AMANE SELECT
• NM_080681.3:c.2916G>A
• NP_542410.2:p.Pro951=
• NP_542411.2:p.Pro1058=
• NP_542411.2:p.Pro1058=
• NP_542412.2:p.Pro972=
• NC_000006.11:g.33139328C>T
• NM_080680.2:c.3174G>A
• c.3174G>A
• p.Pro1058Pro

This HGVS expression did not pass validation

Links:

dbSNP: rs1799910

NCBI 1000 Genomes Browser:

rs1799910

Molecular consequence:

• NM_080679.3:c.2853G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_080680.3:c.3174G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_080681.3:c.2916G>A - synonymous variant - [Sequence Ontology: SO:0001819]