ClinVar

NM_022552.5(DNMT3A):c.2712G>A (p.Pro904=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 25234306 (on Assembly GRCh38)
• Chr2: 25457175 (on Assembly GRCh37)

Preferred name:

NM_022552.5(DNMT3A):c.2712G>A (p.Pro904=)

HGVS:

• NC_000002.12:g.25234306C>T
• NG_029465.2:g.113285G>A
• NM_001320893.1:c.2256G>A
• NM_001375819.1:c.2043G>A
• NM_022552.5:c.2712G>AMANE SELECT
• NM_153759.3:c.2145G>A
• NM_175629.2:c.2712G>A
• NP_001307822.1:p.Pro752=
• NP_001362748.1:p.Pro681=
• NP_072046.2:p.Pro904=
• NP_715640.2:p.Pro715=
• NP_783328.1:p.Pro904=
• LRG_459t2:c.2145G>A
• LRG_459t4:c.2712G>A
• LRG_459:g.113285G>A
• LRG_459p2:p.Pro715=
• LRG_459p4:p.Pro904=
• NC_000002.11:g.25457175C>T
• NR_135490.2:n.3142G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs538669211

NCBI 1000 Genomes Browser:

rs538669211

Molecular consequence:

• NR_135490.2:n.3142G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001320893.1:c.2256G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375819.1:c.2043G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022552.5:c.2712G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_153759.3:c.2145G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_175629.2:c.2712G>A - synonymous variant - [Sequence Ontology: SO:0001819]