ClinVar

NM_012309.5(SHANK2):c.1197G>A (p.Ala399=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.4

Genomic location:

• Chr11: 70820660 (on Assembly GRCh38)
• Chr11: 70666765 (on Assembly GRCh37)

Preferred name:

NM_012309.5(SHANK2):c.1197G>A (p.Ala399=)

HGVS:

• NC_000011.10:g.70820660C>T
• NG_042866.1:g.309137G>A
• NM_001379226.1:c.60G>A
• NM_012309.5:c.1197G>AMANE SELECT
• NP_001366155.1:p.Ala20=
• NP_036441.2:p.Ala399=
• NP_036441.2:p.Ala399=
• NC_000011.9:g.70666765C>T
• NM_012309.4:c.1197G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs11237599

NCBI 1000 Genomes Browser:

rs11237599

Molecular consequence:

• NM_001379226.1:c.60G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_012309.5:c.1197G>A - synonymous variant - [Sequence Ontology: SO:0001819]