ClinVar

NM_000535.7(PMS2):c.2109G>A (p.Thr703=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7p22.1

Genomic location:

• Chr7: 5982889 (on Assembly GRCh38)
• Chr7: 6022520 (on Assembly GRCh37)

Preferred name:

NM_000535.7(PMS2):c.2109G>A (p.Thr703=)

HGVS:

• NC_000007.14:g.5982889C>T
• NG_008466.1:g.31218G>A
• NM_000535.7:c.2109G>AMANE SELECT
• NM_001322003.2:c.1704G>A
• NM_001322004.2:c.1704G>A
• NM_001322005.2:c.1704G>A
• NM_001322006.2:c.1953G>A
• NM_001322007.2:c.1791G>A
• NM_001322008.2:c.1791G>A
• NM_001322009.2:c.1704G>A
• NM_001322010.2:c.1548G>A
• NM_001322011.2:c.1176G>A
• NM_001322012.2:c.1176G>A
• NM_001322013.2:c.1536G>A
• NM_001322014.2:c.2109G>A
• NM_001322015.2:c.1800G>A
• NP_000526.2:p.Thr703=
• NP_001308932.1:p.Thr568=
• NP_001308933.1:p.Thr568=
• NP_001308934.1:p.Thr568=
• NP_001308935.1:p.Thr651=
• NP_001308936.1:p.Thr597=
• NP_001308937.1:p.Thr597=
• NP_001308938.1:p.Thr568=
• NP_001308939.1:p.Thr516=
• NP_001308940.1:p.Thr392=
• NP_001308941.1:p.Thr392=
• NP_001308942.1:p.Thr512=
• NP_001308943.1:p.Thr703=
• NP_001308944.1:p.Thr600=
• LRG_161t1:c.2109G>A
• LRG_161:g.31218G>A
• NC_000007.13:g.6022520C>T
• NM_000535.5:c.2109G>A
• NM_000535.6:c.2109G>A
• NR_136154.1:n.2196G>A
• p.T703T

This HGVS expression did not pass validation

Links:

dbSNP: rs775355718

NCBI 1000 Genomes Browser:

rs775355718

Molecular consequence:

• NR_136154.1:n.2196G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000535.7:c.2109G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322003.2:c.1704G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322004.2:c.1704G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322005.2:c.1704G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322006.2:c.1953G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322007.2:c.1791G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322008.2:c.1791G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322009.2:c.1704G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322010.2:c.1548G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322011.2:c.1176G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322012.2:c.1176G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322013.2:c.1536G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322014.2:c.2109G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322015.2:c.1800G>A - synonymous variant - [Sequence Ontology: SO:0001819]