ClinVar

NM_012309.5(SHANK2):c.*3067A>G

Gene:

SHANK2:SH3 and multiple ankyrin repeat domains 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.3

Genomic location:

• Chr11: 70469802 (on Assembly GRCh38)
• Chr11: 70315907 (on Assembly GRCh37)

Preferred name:

NM_012309.5(SHANK2):c.*3067A>G

HGVS:

• NC_000011.10:g.70469802T>C
• NG_042866.1:g.659995A>G
• NM_001379226.1:c.*3067A>G
• NM_012309.5:c.*3067A>GMANE SELECT
• NM_133266.5:c.*3067A>G
• NC_000011.9:g.70315907T>C
• NM_012309.3:c.*3067A>G
• NR_110766.2:n.4472A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs1041628240

NCBI 1000 Genomes Browser:

rs1041628240

Molecular consequence:

• NM_001379226.1:c.*3067A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_012309.5:c.*3067A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_133266.5:c.*3067A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_110766.2:n.4472A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]