ClinVar

NM_000535.7(PMS2):c.2085C>T (p.Ile695=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7p22.1

Genomic location:

• Chr7: 5982913 (on Assembly GRCh38)
• Chr7: 6022544 (on Assembly GRCh37)

Preferred name:

NM_000535.7(PMS2):c.2085C>T (p.Ile695=)

HGVS:

• NC_000007.14:g.5982913G>A
• NG_008466.1:g.31194C>T
• NM_000535.7:c.2085C>TMANE SELECT
• NM_001322003.2:c.1680C>T
• NM_001322004.2:c.1680C>T
• NM_001322005.2:c.1680C>T
• NM_001322006.2:c.1929C>T
• NM_001322007.2:c.1767C>T
• NM_001322008.2:c.1767C>T
• NM_001322009.2:c.1680C>T
• NM_001322010.2:c.1524C>T
• NM_001322011.2:c.1152C>T
• NM_001322012.2:c.1152C>T
• NM_001322013.2:c.1512C>T
• NM_001322014.2:c.2085C>T
• NM_001322015.2:c.1776C>T
• NP_000526.2:p.Ile695=
• NP_001308932.1:p.Ile560=
• NP_001308933.1:p.Ile560=
• NP_001308934.1:p.Ile560=
• NP_001308935.1:p.Ile643=
• NP_001308936.1:p.Ile589=
• NP_001308937.1:p.Ile589=
• NP_001308938.1:p.Ile560=
• NP_001308939.1:p.Ile508=
• NP_001308940.1:p.Ile384=
• NP_001308941.1:p.Ile384=
• NP_001308942.1:p.Ile504=
• NP_001308943.1:p.Ile695=
• NP_001308944.1:p.Ile592=
• LRG_161t1:c.2085C>T
• LRG_161:g.31194C>T
• NC_000007.13:g.6022544G>A
• NM_000535.5:c.2085C>T
• NR_136154.1:n.2172C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs757157176

NCBI 1000 Genomes Browser:

rs757157176

Molecular consequence:

• NR_136154.1:n.2172C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000535.7:c.2085C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322003.2:c.1680C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322004.2:c.1680C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322005.2:c.1680C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322006.2:c.1929C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322007.2:c.1767C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322008.2:c.1767C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322009.2:c.1680C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322010.2:c.1524C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322011.2:c.1152C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322012.2:c.1152C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322013.2:c.1512C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322014.2:c.2085C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322015.2:c.1776C>T - synonymous variant - [Sequence Ontology: SO:0001819]