ClinVar

NM_032638.5(GATA2):c.61C>T (p.His21Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.3

Genomic location:

• Chr3: 128486971 (on Assembly GRCh38)
• Chr3: 128205814 (on Assembly GRCh37)

Preferred name:

NM_032638.5(GATA2):c.61C>T (p.His21Tyr)

HGVS:

• NC_000003.12:g.128486971G>A
• NG_029334.1:g.11217C>T
• NM_001145661.2:c.61C>T
• NM_001145662.1:c.61C>T
• NM_032638.5:c.61C>TMANE SELECT
• NP_001139133.1:p.His21Tyr
• NP_001139133.1:p.His21Tyr
• NP_001139134.1:p.His21Tyr
• NP_116027.2:p.His21Tyr
• NP_116027.2:p.His21Tyr
• LRG_295t1:c.61C>T
• LRG_295t2:c.61C>T
• LRG_295:g.11217C>T
• LRG_295p1:p.His21Tyr
• LRG_295p2:p.His21Tyr
• NC_000003.11:g.128205814G>A
• NM_001145661.1:c.61C>T
• NM_032638.4:c.61C>T

This HGVS expression did not pass validation

Protein change:

H21Y

Molecular consequence:

• NM_001145661.2:c.61C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145662.1:c.61C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_032638.5:c.61C>T - missense variant - [Sequence Ontology: SO:0001583]