ClinVar

NM_001844.5(COL2A1):c.*136C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.11

Genomic location:

• Chr12: 47973271 (on Assembly GRCh38)
• Chr12: 48367054 (on Assembly GRCh37)

Preferred name:

NM_001844.5(COL2A1):c.*136C>T

HGVS:

• NC_000012.12:g.47973271G>A
• NG_008072.1:g.36232C>T
• NM_001844.5:c.*136C>TMANE SELECT
• NM_033150.3:c.*136C>T
• NC_000012.11:g.48367054G>A
• NM_001844.4:c.*136C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs41272777

NCBI 1000 Genomes Browser:

rs41272777

Molecular consequence:

• NM_001844.5:c.*136C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_033150.3:c.*136C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]