ClinVar

NM_000393.5(COL5A2):c.1366G>T (p.Gly456Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q32.2

Genomic location:

• Chr2: 189068050 (on Assembly GRCh38)
• Chr2: 189932776 (on Assembly GRCh37)

Preferred name:

NM_000393.5(COL5A2):c.1366G>T (p.Gly456Cys)

HGVS:

• NC_000002.12:g.189068050C>A
• NG_011799.3:g.162252G>T
• NM_000393.5:c.1366G>TMANE SELECT
• NP_000384.2:p.Gly456Cys
• LRG_738t1:c.1366G>T
• LRG_738:g.162252G>T
• LRG_738p1:p.Gly456Cys
• NC_000002.11:g.189932776C>A

This HGVS expression did not pass validation

Protein change:

G456C

Links:

dbSNP: rs2105603501

NCBI 1000 Genomes Browser:

rs2105603501

Molecular consequence:

• NM_000393.5:c.1366G>T - missense variant - [Sequence Ontology: SO:0001583]