ClinVar

NM_000535.7(PMS2):c.2049C>T (p.Asn683=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7p22.1

Genomic location:

• Chr7: 5982949 (on Assembly GRCh38)
• Chr7: 6022580 (on Assembly GRCh37)

Preferred name:

NM_000535.7(PMS2):c.2049C>T (p.Asn683=)

HGVS:

• NC_000007.14:g.5982949G>A
• NG_008466.1:g.31158C>T
• NM_000535.7:c.2049C>TMANE SELECT
• NM_001322003.2:c.1644C>T
• NM_001322004.2:c.1644C>T
• NM_001322005.2:c.1644C>T
• NM_001322006.2:c.1893C>T
• NM_001322007.2:c.1731C>T
• NM_001322008.2:c.1731C>T
• NM_001322009.2:c.1644C>T
• NM_001322010.2:c.1488C>T
• NM_001322011.2:c.1116C>T
• NM_001322012.2:c.1116C>T
• NM_001322013.2:c.1476C>T
• NM_001322014.2:c.2049C>T
• NM_001322015.2:c.1740C>T
• NP_000526.2:p.Asn683=
• NP_001308932.1:p.Asn548=
• NP_001308933.1:p.Asn548=
• NP_001308934.1:p.Asn548=
• NP_001308935.1:p.Asn631=
• NP_001308936.1:p.Asn577=
• NP_001308937.1:p.Asn577=
• NP_001308938.1:p.Asn548=
• NP_001308939.1:p.Asn496=
• NP_001308940.1:p.Asn372=
• NP_001308941.1:p.Asn372=
• NP_001308942.1:p.Asn492=
• NP_001308943.1:p.Asn683=
• NP_001308944.1:p.Asn580=
• LRG_161t1:c.2049C>T
• LRG_161:g.31158C>T
• NC_000007.13:g.6022580G>A
• NM_000535.5:c.2049C>T
• NM_000535.6:c.2049C>T
• NR_136154.1:n.2136C>T
• p.N683N

This HGVS expression did not pass validation

Links:

dbSNP: rs752950007

NCBI 1000 Genomes Browser:

rs752950007

Molecular consequence:

• NR_136154.1:n.2136C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000535.7:c.2049C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322003.2:c.1644C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322004.2:c.1644C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322005.2:c.1644C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322006.2:c.1893C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322007.2:c.1731C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322008.2:c.1731C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322009.2:c.1644C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322010.2:c.1488C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322011.2:c.1116C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322012.2:c.1116C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322013.2:c.1476C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322014.2:c.2049C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322015.2:c.1740C>T - synonymous variant - [Sequence Ontology: SO:0001819]