ClinVar

NM_000536.4(RAG2):c.528T>C (p.Ala176=)

Gene:

RAG2:recombination activating 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p12

Genomic location:

• Chr11: 36593641 (on Assembly GRCh38)
• Chr11: 36615191 (on Assembly GRCh37)

Preferred name:

NM_000536.4(RAG2):c.528T>C (p.Ala176=)

HGVS:

• NC_000011.10:g.36593641A>G
• NG_007573.1:g.9596T>C
• NG_033154.1:g.4149A>G
• NM_000536.4:c.528T>CMANE SELECT
• NM_001243785.2:c.528T>C
• NM_001243786.2:c.528T>C
• NP_000527.2:p.Ala176=
• NP_001230714.1:p.Ala176=
• NP_001230715.1:p.Ala176=
• LRG_99:g.9596T>C
• NC_000011.9:g.36615191A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs762907049

NCBI 1000 Genomes Browser:

rs762907049

Molecular consequence:

• NM_000536.4:c.528T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001243785.2:c.528T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001243786.2:c.528T>C - synonymous variant - [Sequence Ontology: SO:0001819]