Canonical Allele Identifier: CA2580068693

Gene: GATA2

Linked Data

• ClinVar Variation Id: 2020827
• ClinVar RCV Id: RCV002857571

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481196del , CM000665.2:g.128481196del	GRCh38
NC_000003.11:g.128200039del , CM000665.1:g.128200039del	GRCh37
NC_000003.10:g.129682729del	NCBI36
NG_029334.1:g.16993del , LRG_295:g.16993del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1267del MANE Plus Clinical	ENSP00000417074.1:p.Glu423ArgfsTer?
ENST00000696466.1:c.1549del	ENSP00000512647.1:p.Glu517ArgfsTer?
ENST00000696672.1:c.242del	ENSP00000512796.1:p.Gly81GlufsTer?
ENST00000341105.7:c.1267del MANE Select	ENSP00000345681.2:p.Glu423ArgfsTer?
ENST00000341105.6:c.1267del	ENSP00000345681.2:p.Glu423ArgfsTer?
ENST00000430265.6:c.1225del	ENSP00000400259.2:p.Glu409ArgfsTer?
ENST00000487848.5:c.1267del	ENSP00000417074.1:p.Glu423ArgfsTer?
ENST00000489987.1:n.384del
NM_001145661.1:c.1267del , LRG_295t1:c.1267del	NP_001139133.1:p.Glu423ArgfsTer?
NM_001145662.1:c.1225del	NP_001139134.1:p.Glu409ArgfsTer?
NM_032638.4:c.1267del , LRG_295t2:c.1267del	NP_116027.2:p.Glu423ArgfsTer?
NM_001145661.2:c.1267del MANE Plus Clinical	NP_001139133.1:p.Glu423ArgfsTer?
NM_032638.5:c.1267del MANE Select	NP_116027.2:p.Glu423ArgfsTer?