Canonical Allele Identifier: CA2499216433

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184158
• ClinVar RCV Id: RCV001542120
• dbSNP Id: rs2107668647

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481866del , CM000665.2:g.128481866del	GRCh38
NC_000003.11:g.128200709del , CM000665.1:g.128200709del	GRCh37
NC_000003.10:g.129683399del	NCBI36
NG_029334.1:g.16325del , LRG_295:g.16325del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1099del MANE Plus Clinical	ENSP00000417074.1:p.Asp367ThrfsTer20
ENST00000696466.1:c.1381del	ENSP00000512647.1:p.Asp461ThrfsTer20
ENST00000696672.1:c.82del	ENSP00000512796.1:p.Asp28ThrfsTer?
ENST00000341105.7:c.1099del MANE Select	ENSP00000345681.2:p.Asp367ThrfsTer20
ENST00000341105.6:c.1099del	ENSP00000345681.2:p.Asp367ThrfsTer20
ENST00000430265.6:c.1057del	ENSP00000400259.2:p.Asp353ThrfsTer20
ENST00000487848.5:c.1099del	ENSP00000417074.1:p.Asp367ThrfsTer20
ENST00000489987.1:n.216del
NM_001145661.1:c.1099del , LRG_295t1:c.1099del	NP_001139133.1:p.Asp367ThrfsTer20
NM_001145662.1:c.1057del	NP_001139134.1:p.Asp353ThrfsTer20
NM_032638.4:c.1099del , LRG_295t2:c.1099del	NP_116027.2:p.Asp367ThrfsTer20
NM_001145661.2:c.1099del MANE Plus Clinical	NP_001139133.1:p.Asp367ThrfsTer20
NM_032638.5:c.1099del MANE Select	NP_116027.2:p.Asp367ThrfsTer20