Canonical Allele Identifier: CA1139532795
Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1184233
ClinVar RCV Id: RCV001542213
dbSNP Id: rs2107671923

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128485796_128485805del , CM000665.2:g.128485796_128485805del GRCh38
NC_000003.11:g.128204639_128204648del , CM000665.1:g.128204639_128204648del GRCh37
NC_000003.10:g.129687329_129687338del NCBI36
NG_029334.1:g.12383_12392del , LRG_295:g.12383_12392del

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.793_802del MANE Plus Clinical ENSP00000417074.1:p.Phe265GlufsTer?
ENST00000696466.1:c.1075_1084del ENSP00000512647.1:p.Phe359GlufsTer?
ENST00000341105.7:c.793_802del MANE Select ENSP00000345681.2:p.Phe265GlufsTer?
ENST00000341105.6:c.793_802del ENSP00000345681.2:p.Phe265GlufsTer?
ENST00000430265.6:c.793_802del ENSP00000400259.2:p.Phe265GlufsTer?
ENST00000487848.5:c.793_802del ENSP00000417074.1:p.Phe265GlufsTer?
NM_001145661.1:c.793_802del , LRG_295t1:c.793_802del NP_001139133.1:p.Phe265GlufsTer?
NM_001145662.1:c.793_802del NP_001139134.1:p.Phe265GlufsTer?
NM_032638.4:c.793_802del , LRG_295t2:c.793_802del NP_116027.2:p.Phe265GlufsTer?
NM_001145661.2:c.793_802del MANE Plus Clinical NP_001139133.1:p.Phe265GlufsTer?
NM_032638.5:c.793_802del MANE Select NP_116027.2:p.Phe265GlufsTer?