ClinVar

NM_001844.5(COL2A1):c.1546G>A (p.Gly516Ser)

Gene:

COL2A1:collagen type II alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.11

Genomic location:

• Chr12: 47985947 (on Assembly GRCh38)
• Chr12: 48379730 (on Assembly GRCh37)

Preferred name:

NM_001844.5(COL2A1):c.1546G>A (p.Gly516Ser)

HGVS:

• NC_000012.12:g.47985947C>T
• NG_008072.1:g.23556G>A
• NM_001844.5:c.1546G>AMANE SELECT
• NM_033150.3:c.1339G>A
• NP_001835.3:p.Gly516Ser
• NP_149162.2:p.Gly447Ser
• NC_000012.11:g.48379730C>T
• NM_001844.4:c.1546G>A

This HGVS expression did not pass validation

Protein change:

G447S

Links:

dbSNP: rs886041895

NCBI 1000 Genomes Browser:

rs886041895

Molecular consequence:

• NM_001844.5:c.1546G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033150.3:c.1339G>A - missense variant - [Sequence Ontology: SO:0001583]