ClinVar

NM_001849.4(COL6A2):c.2182G>A (p.Val728Met)

Gene:

COL6A2:collagen type VI alpha 2 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 46125997 (on Assembly GRCh38)
• Chr21: 47545911 (on Assembly GRCh37)

Preferred name:

NM_001849.4(COL6A2):c.2182G>A (p.Val728Met)

HGVS:

• NC_000021.9:g.46125997G>A
• NG_008675.1:g.32879G>A
• NM_001849.4:c.2182G>AMANE SELECT
• NM_058174.3:c.2182G>A
• NM_058175.3:c.2182G>A
• NP_001840.3:p.Val728Met
• NP_001840.3:p.Val728Met
• NP_478054.2:p.Val728Met
• NP_478055.2:p.Val728Met
• LRG_476t1:c.2182G>A
• LRG_476:g.32879G>A
• LRG_476p1:p.Val728Met
• NC_000021.8:g.47545911G>A
• NM_001849.3:c.2182G>A
• P12110:p.Val728Met

This HGVS expression did not pass validation

Protein change:

V728M

Links:

UniProtKB: P12110#VAR_076961; dbSNP: rs200585528

NCBI 1000 Genomes Browser:

rs200585528

Molecular consequence:

• NM_001849.4:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_058174.3:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_058175.3:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

4