Canonical Allele Identifier: CA1139532789

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184213
• ClinVar RCV Id: RCV001542187
• dbSNP Id: rs2107672309

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128486005_128486012dup , CM000665.2:g.128486005_128486012dup	GRCh38
NC_000003.11:g.128204848_128204855dup , CM000665.1:g.128204848_128204855dup	GRCh37
NC_000003.10:g.129687538_129687545dup	NCBI36
NG_029334.1:g.12176_12183dup , LRG_295:g.12176_12183dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.586_593dup MANE Plus Clinical	ENSP00000417074.1:p.Gly199LeufsTer22
ENST00000696466.1:c.868_875dup	ENSP00000512647.1:p.Gly293LeufsTer22
ENST00000341105.7:c.586_593dup MANE Select	ENSP00000345681.2:p.Gly199LeufsTer22
ENST00000341105.6:c.586_593dup	ENSP00000345681.2:p.Gly199LeufsTer22
ENST00000430265.6:c.586_593dup	ENSP00000400259.2:p.Gly199LeufsTer22
ENST00000487848.5:c.586_593dup	ENSP00000417074.1:p.Gly199LeufsTer22
NM_001145661.1:c.586_593dup , LRG_295t1:c.586_593dup	NP_001139133.1:p.Gly199LeufsTer22
NM_001145662.1:c.586_593dup	NP_001139134.1:p.Gly199LeufsTer22
NM_032638.4:c.586_593dup , LRG_295t2:c.586_593dup	NP_116027.2:p.Gly199LeufsTer22
NM_001145661.2:c.586_593dup MANE Plus Clinical	NP_001139133.1:p.Gly199LeufsTer22
NM_032638.5:c.586_593dup MANE Select	NP_116027.2:p.Gly199LeufsTer22