ClinVar

NM_012309.5(SHANK2):c.5274G>A (p.Ala1758=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.3

Genomic location:

• Chr11: 70473145 (on Assembly GRCh38)
• Chr11: 70319250 (on Assembly GRCh37)

Preferred name:

NM_012309.5(SHANK2):c.5274G>A (p.Ala1758=)

HGVS:

• NC_000011.10:g.70473145C>T
• NG_042866.1:g.656652G>A
• NG_042866.2:g.685083G>A
• NM_001379226.1:c.4137G>A
• NM_012309.5:c.5274G>AMANE SELECT
• NM_133266.5:c.3510G>A
• NP_001366155.1:p.Ala1379=
• NP_036441.2:p.Ala1758=
• NP_573573.2:p.Ala1170=
• NC_000011.9:g.70319250C>T
• NR_110766.2:n.1129G>A

This HGVS expression did not pass validation

Molecular consequence:

• NR_110766.2:n.1129G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001379226.1:c.4137G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_012309.5:c.5274G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133266.5:c.3510G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1