ClinVar

NM_000014.6(A2M):c.2008C>T (p.Leu670=)

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: 9095544 (on Assembly GRCh38)
• Chr12: 9248140 (on Assembly GRCh37)

Preferred name:

NM_000014.6(A2M):c.2008C>T (p.Leu670=)

HGVS:

• NC_000012.12:g.9095544G>A
• NG_011717.1:g.25419C>T
• NM_000014.6:c.2008C>TMANE SELECT
• NM_000014.6:c.2008C>T
• NM_001347423.2:c.2008C>T
• NM_001347424.2:c.1708C>T
• NM_001347425.2:c.1558C>T
• NP_000005.3:p.Leu670=
• NP_001334352.2:p.Leu670=
• NP_001334353.2:p.Leu570=
• NP_001334354.2:p.Leu520=
• LRG_591t1:c.2008C>T
• LRG_591p1:p.Leu670=
• NC_000012.11:g.9248140G>A
• NM_000014.4:c.2008C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs774667464

NCBI 1000 Genomes Browser:

rs774667464

Molecular consequence:

• NM_000014.6:c.2008C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347423.2:c.2008C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347424.2:c.1708C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347425.2:c.1558C>T - synonymous variant - [Sequence Ontology: SO:0001819]