ClinVar

NM_000014.6(A2M):c.896G>A (p.Cys299Tyr)

Genes:

A2M:alpha-2-macroglobulin [Gene - OMIM - HGNC]
KLRG1:killer cell lectin like receptor G1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

• Chr12: 9106589 (on Assembly GRCh38)
• Chr12: 9259185 (on Assembly GRCh37)

Preferred name:

NM_000014.6(A2M):c.896G>A (p.Cys299Tyr)

HGVS:

• NC_000012.12:g.9106589C>T
• NG_011717.2:g.14374G>A
• NM_000014.6:c.896G>AMANE SELECT
• NM_001347423.2:c.896G>A
• NM_001347424.2:c.596G>A
• NM_001347425.2:c.446G>A
• NP_000005.3:p.Cys299Tyr
• NP_001334352.2:p.Cys299Tyr
• NP_001334353.2:p.Cys199Tyr
• NP_001334354.2:p.Cys149Tyr
• LRG_591t1:c.896G>A
• LRG_591:g.14374G>A
• LRG_591p1:p.Cys299Tyr
• NC_000012.11:g.9259185C>T
• NM_000014.4:c.896G>A

This HGVS expression did not pass validation

Protein change:

C149Y

Molecular consequence:

• NM_000014.6:c.896G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347423.2:c.896G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347424.2:c.596G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347425.2:c.446G>A - missense variant - [Sequence Ontology: SO:0001583]