ClinVar

NM_012309.5(SHANK2):c.5248G>A (p.Gly1750Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.3

Genomic location:

• Chr11: 70473171 (on Assembly GRCh38)
• Chr11: 70319276 (on Assembly GRCh37)

Preferred name:

NM_012309.5(SHANK2):c.5248G>A (p.Gly1750Arg)

HGVS:

• NC_000011.10:g.70473171C>T
• NG_042866.1:g.656626G>A
• NG_042866.2:g.685057G>A
• NM_001379226.1:c.4111G>A
• NM_012309.5:c.5248G>AMANE SELECT
• NM_133266.5:c.3484G>A
• NP_001366155.1:p.Gly1371Arg
• NP_036441.2:p.Gly1750Arg
• NP_573573.2:p.Gly1162Arg
• NC_000011.9:g.70319276C>T
• NM_012309.3:c.5248G>A
• NR_110766.2:n.1103G>A

This HGVS expression did not pass validation

Protein change:

G1162R

Molecular consequence:

• NM_001379226.1:c.4111G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_012309.5:c.5248G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133266.5:c.3484G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_110766.2:n.1103G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]