ClinVar

NM_000535.7(PMS2):c.1987G>A (p.Glu663Lys)

Gene:

PMS2:PMS1 homolog 2, mismatch repair system component [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p22.1

Genomic location:

• Chr7: 5986778 (on Assembly GRCh38)
• Chr7: 6026409 (on Assembly GRCh37)

Preferred name:

NM_000535.7(PMS2):c.1987G>A (p.Glu663Lys)

HGVS:

• NC_000007.14:g.5986778C>T
• NG_008466.1:g.27329G>A
• NM_000535.7:c.1987G>AMANE SELECT
• NM_001322003.2:c.1582G>A
• NM_001322004.2:c.1582G>A
• NM_001322005.2:c.1582G>A
• NM_001322006.2:c.1831G>A
• NM_001322007.2:c.1669G>A
• NM_001322008.2:c.1669G>A
• NM_001322009.2:c.1582G>A
• NM_001322010.2:c.1426G>A
• NM_001322011.2:c.1054G>A
• NM_001322012.2:c.1054G>A
• NM_001322013.2:c.1414G>A
• NM_001322014.2:c.1987G>A
• NM_001322015.2:c.1678G>A
• NP_000526.2:p.Glu663Lys
• NP_001308932.1:p.Glu528Lys
• NP_001308933.1:p.Glu528Lys
• NP_001308934.1:p.Glu528Lys
• NP_001308935.1:p.Glu611Lys
• NP_001308936.1:p.Glu557Lys
• NP_001308937.1:p.Glu557Lys
• NP_001308938.1:p.Glu528Lys
• NP_001308939.1:p.Glu476Lys
• NP_001308940.1:p.Glu352Lys
• NP_001308941.1:p.Glu352Lys
• NP_001308942.1:p.Glu472Lys
• NP_001308943.1:p.Glu663Lys
• NP_001308944.1:p.Glu560Lys
• LRG_161t1:c.1987G>A
• LRG_161:g.27329G>A
• NC_000007.13:g.6026409C>T
• NM_000535.5:c.1987G>A
• NR_136154.1:n.2074G>A

This HGVS expression did not pass validation

Protein change:

E352K

Links:

dbSNP: rs1554297061

NCBI 1000 Genomes Browser:

rs1554297061

Molecular consequence:

• NM_000535.7:c.1987G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322003.2:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322004.2:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322005.2:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322006.2:c.1831G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322007.2:c.1669G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322008.2:c.1669G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322009.2:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322010.2:c.1426G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322011.2:c.1054G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322012.2:c.1054G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322013.2:c.1414G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322014.2:c.1987G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322015.2:c.1678G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_136154.1:n.2074G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]