ClinVar

NM_004287.5(GOSR2):c.*2336A>T

Genes:

GOSR2:golgi SNAP receptor complex member 2 [Gene - OMIM - HGNC]
LRRC37A2:leucine rich repeat containing 37 member A2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.32

Genomic location:

• Chr17: 46941096 (on Assembly GRCh38)
• Chr17: 45018462 (on Assembly GRCh37)

Preferred name:

NM_004287.5(GOSR2):c.*2336A>T

HGVS:

• NC_000017.11:g.46941096A>T
• NG_031806.2:g.22977A>T
• NM_001321133.2:c.583+2392A>T
• NM_001321134.2:c.*2336A>T
• NM_001330252.2:c.*2336A>T
• NM_001353114.2:c.*2336A>T
• NM_001353115.2:c.*2336A>T
• NM_001353116.2:c.*483A>T
• NM_001363851.2:c.*2336A>T
• NM_004287.5:c.*2336A>TMANE SELECT
• NM_054022.4:c.*483A>T
• NC_000017.10:g.45018462A>T
• NM_004287.3:c.*2336A>T

This HGVS expression did not pass validation

Links:

dbSNP: rs569751775

NCBI 1000 Genomes Browser:

rs569751775

Molecular consequence:

• NM_001321134.2:c.*2336A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001330252.2:c.*2336A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001353114.2:c.*2336A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001353115.2:c.*2336A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001353116.2:c.*483A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001363851.2:c.*2336A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_004287.5:c.*2336A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_054022.4:c.*483A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001321133.2:c.583+2392A>T - intron variant - [Sequence Ontology: SO:0001627]