ClinVar

NM_032638.5(GATA2):c.1402G>A (p.Gly468Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.3

Genomic location:

• Chr3: 128481060 (on Assembly GRCh38)
• Chr3: 128199903 (on Assembly GRCh37)

Preferred name:

NM_032638.5(GATA2):c.1402G>A (p.Gly468Ser)

HGVS:

• NC_000003.12:g.128481060C>T
• NG_029334.1:g.17128G>A
• NM_001145661.2:c.1402G>A
• NM_001145662.1:c.1360G>A
• NM_032638.5:c.1402G>AMANE SELECT
• NP_001139133.1:p.Gly468Ser
• NP_001139134.1:p.Gly454Ser
• NP_116027.2:p.Gly468Ser
• NP_116027.2:p.Gly468Ser
• LRG_295t2:c.1402G>A
• LRG_295:g.17128G>A
• LRG_295p2:p.Gly468Ser
• NC_000003.11:g.128199903C>T
• NM_032638.4:c.1402G>A

This HGVS expression did not pass validation

Protein change:

G454S

Links:

dbSNP: rs777726701

NCBI 1000 Genomes Browser:

rs777726701

Molecular consequence:

• NM_001145661.2:c.1402G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145662.1:c.1360G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_032638.5:c.1402G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1