ClinVar

NM_016627.5(AMZ2):c.521C>A (p.Thr174Lys)

Gene:

AMZ2:archaelysin family metallopeptidase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q24.2

Genomic location:

• Chr17: 68251113 (on Assembly GRCh38)
• Chr17: 66247254 (on Assembly GRCh37)

Preferred name:

NM_016627.5(AMZ2):c.521C>A (p.Thr174Lys)

HGVS:

• NC_000017.11:g.68251113C>A
• NG_051827.1:g.49985C>A
• NM_001033569.2:c.521C>A
• NM_001033570.2:c.521C>A
• NM_001033571.1:c.521C>A
• NM_001033572.1:c.521C>A
• NM_001033574.2:c.347C>A
• NM_001289054.2:c.521C>A
• NM_001289056.2:c.521C>A
• NM_001346471.1:c.521C>A
• NM_001346472.1:c.521C>A
• NM_001346473.1:c.521C>A
• NM_001346474.2:c.521C>A
• NM_001346475.2:c.521C>A
• NM_001346476.2:c.521C>A
• NM_001346477.2:c.521C>A
• NM_001346478.2:c.521C>A
• NM_001346479.2:c.521C>A
• NM_001346480.1:c.347C>A
• NM_001346481.1:c.419C>A
• NM_001346482.1:c.419C>A
• NM_001346483.2:c.419C>A
• NM_001346484.2:c.419C>A
• NM_001346485.2:c.353C>A
• NM_016627.5:c.521C>AMANE SELECT
• NP_001028741.1:p.Thr174Lys
• NP_001028742.1:p.Thr174Lys
• NP_001028743.1:p.Thr174Lys
• NP_001028743.1:p.Thr174Lys
• NP_001028744.1:p.Thr174Lys
• NP_001028746.1:p.Thr116Lys
• NP_001275983.1:p.Thr174Lys
• NP_001275985.1:p.Thr174Lys
• NP_001333400.1:p.Thr174Lys
• NP_001333401.1:p.Thr174Lys
• NP_001333402.1:p.Thr174Lys
• NP_001333403.1:p.Thr174Lys
• NP_001333404.1:p.Thr174Lys
• NP_001333405.1:p.Thr174Lys
• NP_001333406.1:p.Thr174Lys
• NP_001333407.1:p.Thr174Lys
• NP_001333408.1:p.Thr174Lys
• NP_001333409.1:p.Thr116Lys
• NP_001333410.1:p.Thr140Lys
• NP_001333411.1:p.Thr140Lys
• NP_001333412.1:p.Thr140Lys
• NP_001333413.1:p.Thr140Lys
• NP_001333414.1:p.Thr118Lys
• NP_057711.3:p.Thr174Lys
• NC_000017.10:g.66247254C>A
• NR_144442.2:n.1184C>A
• NR_144443.2:n.1194C>A

This HGVS expression did not pass validation

Protein change:

T116K

Links:

dbSNP: rs782698957

NCBI 1000 Genomes Browser:

rs782698957

Molecular consequence:

• NM_001033569.2:c.521C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001033570.2:c.521C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001033571.1:c.521C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001033572.1:c.521C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001033574.2:c.347C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289054.2:c.521C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289056.2:c.521C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346471.1:c.521C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346472.1:c.521C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346473.1:c.521C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346474.2:c.521C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346475.2:c.521C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346476.2:c.521C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346477.2:c.521C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346478.2:c.521C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346479.2:c.521C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346480.1:c.347C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346481.1:c.419C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346482.1:c.419C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346483.2:c.419C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346484.2:c.419C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346485.2:c.353C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_016627.5:c.521C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_144442.2:n.1184C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_144443.2:n.1194C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]