ClinVar

NM_000393.5(COL5A2):c.*1904C>T

Gene:

COL5A2:collagen type V alpha 2 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q32.2

Genomic location:

• Chr2: 189032166 (on Assembly GRCh38)
• Chr2: 189896892 (on Assembly GRCh37)

Preferred name:

NM_000393.5(COL5A2):c.*1904C>T

HGVS:

• NC_000002.12:g.189032166G>A
• NG_011799.3:g.198136C>T
• NM_000393.5:c.*1904C>TMANE SELECT
• LRG_738t1:c.*1904C>T
• LRG_738:g.198136C>T
• NC_000002.11:g.189896892G>A
• NG_011799.2:g.152714C>T
• NM_000393.3:c.*1904C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs75096234

NCBI 1000 Genomes Browser:

rs75096234

Molecular consequence:

• NM_000393.5:c.*1904C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]