ClinVar

NM_032638.5(GATA2):c.1232C>T (p.Ala411Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.3

Genomic location:

• Chr3: 128481230 (on Assembly GRCh38)
• Chr3: 128200073 (on Assembly GRCh37)

Preferred name:

NM_032638.5(GATA2):c.1232C>T (p.Ala411Val)

HGVS:

• NC_000003.12:g.128481230G>A
• NG_029334.1:g.16958C>T
• NM_001145661.2:c.1232C>T
• NM_001145662.1:c.1190C>T
• NM_032638.5:c.1232C>TMANE SELECT
• NP_001139133.1:p.Ala411Val
• NP_001139134.1:p.Ala397Val
• NP_116027.2:p.Ala411Val
• NP_116027.2:p.Ala411Val
• LRG_295t2:c.1232C>T
• LRG_295:g.16958C>T
• LRG_295p2:p.Ala411Val
• NC_000003.11:g.128200073G>A
• NM_032638.4:c.1232C>T

This HGVS expression did not pass validation

Protein change:

A397V

Links:

dbSNP: rs374457534

NCBI 1000 Genomes Browser:

rs374457534

Molecular consequence:

• NM_001145661.2:c.1232C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145662.1:c.1190C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_032638.5:c.1232C>T - missense variant - [Sequence Ontology: SO:0001583]