ClinVar

NM_001013251.3(SLC3A2):c.684G>A (p.Lys228=)

Gene:

SLC3A2:solute carrier family 3 member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q12.3

Genomic location:

• Chr11: 62882993 (on Assembly GRCh38)
• Chr11: 62650465 (on Assembly GRCh37)

Preferred name:

NM_001013251.3(SLC3A2):c.684G>A (p.Lys228=)

HGVS:

• NC_000011.10:g.62882993G>A
• NM_001012662.3:c.990G>A
• NM_001012664.3:c.801G>A
• NM_001013251.3:c.684G>AMANE SELECT
• NM_002394.6:c.987G>A
• NP_001012680.1:p.Lys330=
• NP_001012682.1:p.Lys267=
• NP_001013269.1:p.Lys228=
• NP_002385.3:p.Lys329=
• NC_000011.9:g.62650465G>A
• NM_001012662.2:c.990G>A
• NR_037193.2:n.454G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs150891716

NCBI 1000 Genomes Browser:

rs150891716

Molecular consequence:

• NR_037193.2:n.454G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001012662.3:c.990G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001012664.3:c.801G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001013251.3:c.684G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002394.6:c.987G>A - synonymous variant - [Sequence Ontology: SO:0001819]