ClinVar

NM_001849.4(COL6A2):c.1585G>A (p.Glu529Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 46122508 (on Assembly GRCh38)
• Chr21: 47542422 (on Assembly GRCh37)

Preferred name:

NM_001849.4(COL6A2):c.1585G>A (p.Glu529Lys)

HGVS:

• NC_000021.9:g.46122508G>A
• NG_008675.1:g.29390G>A
• NM_001849.4:c.1585G>AMANE SELECT
• NM_058174.3:c.1585G>A
• NM_058175.3:c.1585G>A
• NP_001840.3:p.Glu529Lys
• NP_001840.3:p.Glu529Lys
• NP_478054.2:p.Glu529Lys
• NP_478055.2:p.Glu529Lys
• LRG_476t1:c.1585G>A
• LRG_476:g.29390G>A
• LRG_476p1:p.Glu529Lys
• NC_000021.8:g.47542422G>A
• NM_001849.3:c.1585G>A

This HGVS expression did not pass validation

Protein change:

E529K

Links:

dbSNP: rs200667230

NCBI 1000 Genomes Browser:

rs200667230

Molecular consequence:

• NM_001849.4:c.1585G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_058174.3:c.1585G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_058175.3:c.1585G>A - missense variant - [Sequence Ontology: SO:0001583]