ClinVar

NM_022552.5(DNMT3A):c.2676A>G (p.Ser892=)

Gene:

DNMT3A:DNA methyltransferase 3 alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 25234342 (on Assembly GRCh38)
• Chr2: 25457211 (on Assembly GRCh37)

Preferred name:

NM_022552.5(DNMT3A):c.2676A>G (p.Ser892=)

HGVS:

• NC_000002.12:g.25234342T>C
• NG_029465.2:g.113249A>G
• NM_001320893.1:c.2220A>G
• NM_001375819.1:c.2007A>G
• NM_022552.5:c.2676A>GMANE SELECT
• NM_153759.3:c.2109A>G
• NM_175629.2:c.2676A>G
• NP_001307822.1:p.Ser740=
• NP_001362748.1:p.Ser669=
• NP_072046.2:p.Ser892=
• NP_715640.2:p.Ser703=
• NP_783328.1:p.Ser892=
• LRG_459t2:c.2109A>G
• LRG_459t4:c.2676A>G
• LRG_459:g.113249A>G
• LRG_459p2:p.Ser703=
• LRG_459p4:p.Ser892=
• NC_000002.11:g.25457211T>C
• NR_135490.2:n.3106A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs763189481

NCBI 1000 Genomes Browser:

rs763189481

Molecular consequence:

• NR_135490.2:n.3106A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001320893.1:c.2220A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375819.1:c.2007A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022552.5:c.2676A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_153759.3:c.2109A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_175629.2:c.2676A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1