ClinVar

NM_012309.5(SHANK2):c.5151G>A (p.Met1717Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.3

Genomic location:

• Chr11: 70473268 (on Assembly GRCh38)
• Chr11: 70319373 (on Assembly GRCh37)

Preferred name:

NM_012309.5(SHANK2):c.5151G>A (p.Met1717Ile)

HGVS:

• NC_000011.10:g.70473268C>T
• NG_042866.1:g.656529G>A
• NM_001379226.1:c.4014G>A
• NM_012309.5:c.5151G>AMANE SELECT
• NM_133266.5:c.3387G>A
• NP_001366155.1:p.Met1338Ile
• NP_036441.2:p.Met1717Ile
• NP_573573.2:p.Met1129Ile
• NC_000011.9:g.70319373C>T
• NM_133266.3:c.3387G>A
• NM_133266.4:c.3387G>A
• NR_110766.2:n.1006G>A

This HGVS expression did not pass validation

Protein change:

M1129I

Links:

dbSNP: rs140134890

NCBI 1000 Genomes Browser:

rs140134890

Molecular consequence:

• NM_001379226.1:c.4014G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_012309.5:c.5151G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133266.5:c.3387G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_110766.2:n.1006G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

10