ClinVar

NM_012309.5(SHANK2):c.2531T>C (p.Met844Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.3

Genomic location:

• Chr11: 70490296 (on Assembly GRCh38)
• Chr11: 70336401 (on Assembly GRCh37)

Preferred name:

NM_012309.5(SHANK2):c.2531T>C (p.Met844Thr)

HGVS:

• NC_000011.10:g.70490296A>G
• NG_042866.1:g.639501T>C
• NG_042866.2:g.667932T>C
• NM_001379226.1:c.1394T>C
• NM_012309.5:c.2531T>CMANE SELECT
• NM_133266.5:c.767T>C
• NP_001366155.1:p.Met465Thr
• NP_036441.2:p.Met844Thr
• NP_573573.2:p.Met256Thr
• NC_000011.9:g.70336401A>G

This HGVS expression did not pass validation

Protein change:

M256T

Links:

dbSNP: rs782763423

NCBI 1000 Genomes Browser:

rs782763423

Molecular consequence:

• NM_001379226.1:c.1394T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_012309.5:c.2531T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_133266.5:c.767T>C - missense variant - [Sequence Ontology: SO:0001583]