ClinVar

NM_032638.5(GATA2):c.729C>T (p.His243=)

Gene:

GATA2:GATA binding protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.3

Genomic location:

• Chr3: 128485869 (on Assembly GRCh38)
• Chr3: 128204712 (on Assembly GRCh37)

Preferred name:

NM_032638.5(GATA2):c.729C>T (p.His243=)

HGVS:

• NC_000003.12:g.128485869G>A
• NG_029334.1:g.12319C>T
• NM_001145661.1:c.729C>T
• NM_001145661.2:c.729C>T
• NM_001145662.1:c.729C>T
• NM_032638.5:c.729C>TMANE SELECT
• NP_001139133.1:p.His243=
• NP_001139134.1:p.His243=
• NP_116027.2:p.His243=
• NP_116027.2:p.His243=
• LRG_295t1:c.729C>T
• LRG_295t2:c.729C>T
• LRG_295:g.12319C>T
• LRG_295p2:p.His243=
• NC_000003.11:g.128204712G>A
• NM_032638.4:c.729C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs369673069

NCBI 1000 Genomes Browser:

rs369673069

Molecular consequence:

• NM_001145661.2:c.729C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001145662.1:c.729C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_032638.5:c.729C>T - synonymous variant - [Sequence Ontology: SO:0001819]