ClinVar

NM_002203.4(ITGA2):c.*2570C>A

Genes:

MOCS2:molybdenum cofactor synthesis 2 [Gene - OMIM - HGNC]
ITGA2:integrin subunit alpha 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q11.2

Genomic location:

• Chr5: 53093169 (on Assembly GRCh38)
• Chr5: 52388999 (on Assembly GRCh37)

Preferred name:

NM_002203.4(ITGA2):c.*2570C>A

HGVS:

• NC_000005.10:g.53093169C>A
• NG_008330.2:g.108844C>A
• NM_002203.4:c.*2570C>AMANE SELECT
• LRG_1001t1:c.*2570C>A
• LRG_1001:g.108844C>A
• NC_000005.9:g.52388999C>A
• NG_008330.1:g.108844C>A
• NM_002203.3:c.*2570C>A
• NR_073103.2:n.6130C>A
• NR_073104.2:n.6091C>A
• NR_073105.2:n.6274C>A
• NR_073106.2:n.6225C>A
• NR_073107.2:n.6112C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1900182

NCBI 1000 Genomes Browser:

rs1900182

Molecular consequence:

• NM_002203.4:c.*2570C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_073103.2:n.6130C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_073104.2:n.6091C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_073105.2:n.6274C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_073106.2:n.6225C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_073107.2:n.6112C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]