Canonical Allele Identifier: CA2838140784

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481936_128482124delinsCGCAGCAGACTAGGAGGGGAGGGCTAGCGTCAGAGGCTGTCTCCCACGCCCCACCTTGACCTCCTCCTGGGCCCTTAGCACCACTCCCAGCCCCACCGCCGAGCCTGGAGCGATAGGTCCTACCGGGGAATCAAAGCATCTCAAACCGAGGAATTTTAGAATTTGAGATGGAAACTAGTTGGGAA , CM000665.2:g.128481936_128482124delinsCGCAGCAGACTAGGAGGGGAGGGCTAGCGTCAGAGGCTGTCTCCCACGCCCCACCTTGACCTCCTCCTGGGCCCTTAGCACCACTCCCAGCCCCACCGCCGAGCCTGGAGCGATAGGTCCTACCGGGGAATCAAAGCATCTCAAACCGAGGAATTTTAGAATTTGAGATGGAAACTAGTTGGGAA	GRCh38
NC_000003.11:g.128200779_128200967delinsCGCAGCAGACTAGGAGGGGAGGGCTAGCGTCAGAGGCTGTCTCCCACGCCCCACCTTGACCTCCTCCTGGGCCCTTAGCACCACTCCCAGCCCCACCGCCGAGCCTGGAGCGATAGGTCCTACCGGGGAATCAAAGCATCTCAAACCGAGGAATTTTAGAATTTGAGATGGAAACTAGTTGGGAA , CM000665.1:g.128200779_128200967delinsCGCAGCAGACTAGGAGGGGAGGGCTAGCGTCAGAGGCTGTCTCCCACGCCCCACCTTGACCTCCTCCTGGGCCCTTAGCACCACTCCCAGCCCCACCGCCGAGCCTGGAGCGATAGGTCCTACCGGGGAATCAAAGCATCTCAAACCGAGGAATTTTAGAATTTGAGATGGAAACTAGTTGGGAA	GRCh37
NC_000003.10:g.129683469_129683657delinsCGCAGCAGACTAGGAGGGGAGGGCTAGCGTCAGAGGCTGTCTCCCACGCCCCACCTTGACCTCCTCCTGGGCCCTTAGCACCACTCCCAGCCCCACCGCCGAGCCTGGAGCGATAGGTCCTACCGGGGAATCAAAGCATCTCAAACCGAGGAATTTTAGAATTTGAGATGGAAACTAGTTGGGAA	NCBI36
NG_029334.1:g.16064_16252delinsTTCCCAACTAGTTTCCATCTCAAATTCTAAAATTCCTCGGTTTGAGATGCTTTGATTCCCCGGTAGGACCTATCGCTCCAGGCTCGGCGGTGGGGCTGGGAGTGGTGCTAAGGGCCCAGGAGGAGGTCAAGGTGGGGCGTGGGAGACAGCCTCTGACGCTAGCCCTCCCCTCCTAGTCTGCTGCG , LRG_295:g.16064_16252delinsTTCCCAACTAGTTTCCATCTCAAATTCTAAAATTCCTCGGTTTGAGATGCTTTGATTCCCCGGTAGGACCTATCGCTCCAGGCTCGGCGGTGGGGCTGGGAGTGGTGCTAAGGGCCCAGGAGGAGGTCAAGGTGGGGCGTGGGAGACAGCCTCTGACGCTAGCCCTCCCCTCCTAGTCTGCTGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1018-180_1026delinsTTCCCAACTAGTTTCCATCTCAAATTCTAAAATTCCTCGGTTTGAGATGCTTTGATTCCCCGGTAGGACCTATCGCTCCAGGCTCGGCGGTGGGGCTGGGAGTGGTGCTAAGGGCCCAGGAGGAGGTCAAGGTGGGGCGTGGGAGACAGCCTCTGACGCTAGCCCTCCCCTCCTAGTCTGCTGCG
ENST00000696466.1:c.1300-180_1308delinsTTCCCAACTAGTTTCCATCTCAAATTCTAAAATTCCTCGGTTTGAGATGCTTTGATTCCCCGGTAGGACCTATCGCTCCAGGCTCGGCGGTGGGGCTGGGAGTGGTGCTAAGGGCCCAGGAGGAGGTCAAGGTGGGGCGTGGGAGACAGCCTCTGACGCTAGCCCTCCCCTCCTAGTCTGCTGCG
ENST00000341105.7:c.1018-180_1026delinsTTCCCAACTAGTTTCCATCTCAAATTCTAAAATTCCTCGGTTTGAGATGCTTTGATTCCCCGGTAGGACCTATCGCTCCAGGCTCGGCGGTGGGGCTGGGAGTGGTGCTAAGGGCCCAGGAGGAGGTCAAGGTGGGGCGTGGGAGACAGCCTCTGACGCTAGCCCTCCCCTCCTAGTCTGCTGCG
ENST00000341105.6:c.1018-180_1026delinsTTCCCAACTAGTTTCCATCTCAAATTCTAAAATTCCTCGGTTTGAGATGCTTTGATTCCCCGGTAGGACCTATCGCTCCAGGCTCGGCGGTGGGGCTGGGAGTGGTGCTAAGGGCCCAGGAGGAGGTCAAGGTGGGGCGTGGGAGACAGCCTCTGACGCTAGCCCTCCCCTCCTAGTCTGCTGCG
ENST00000430265.6:c.1018-222_1018-34delinsTTCCCAACTAGTTTCCATCTCAAATTCTAAAATTCCTCGGTTTGAGATGCTTTGATTCCCCGGTAGGACCTATCGCTCCAGGCTCGGCGGTGGGGCTGGGAGTGGTGCTAAGGGCCCAGGAGGAGGTCAAGGTGGGGCGTGGGAGACAGCCTCTGACGCTAGCCCTCCCCTCCTAGTCTGCTGCG	ENSP00000400259.2:n.1018-222_1018-34delinsTTCCCAACTAGTTTCCATC...
ENST00000487848.5:c.1018-180_1026delinsTTCCCAACTAGTTTCCATCTCAAATTCTAAAATTCCTCGGTTTGAGATGCTTTGATTCCCCGGTAGGACCTATCGCTCCAGGCTCGGCGGTGGGGCTGGGAGTGGTGCTAAGGGCCCAGGAGGAGGTCAAGGTGGGGCGTGGGAGACAGCCTCTGACGCTAGCCCTCCCCTCCTAGTCTGCTGCG
NM_001145661.1:c.1018-180_1026delinsTTCCCAACTAGTTTCCATCTCAAATTCTAAAATTCCTCGGTTTGAGATGCTTTGATTCCCCGGTAGGACCTATCGCTCCAGGCTCGGCGGTGGGGCTGGGAGTGGTGCTAAGGGCCCAGGAGGAGGTCAAGGTGGGGCGTGGGAGACAGCCTCTGACGCTAGCCCTCCCCTCCTAGTCTGCTGCG , LRG_295t1:c.1018-180_1026delinsTTCCCAACTAGTTTCCATCTCAAATTCTAAAATTCCTCGGTTTGAGATGCTTTGATTCCCCGGTAGGACCTATCGCTCCAGGCTCGGCGGTGGGGCTGGGAGTGGTGCTAAGGGCCCAGGAGGAGGTCAAGGTGGGGCGTGGGAGACAGCCTCTGACGCTAGCCCTCCCCTCCTAGTCTGCTGCG
NM_001145662.1:c.1018-222_1018-34delinsTTCCCAACTAGTTTCCATCTCAAATTCTAAAATTCCTCGGTTTGAGATGCTTTGATTCCCCGGTAGGACCTATCGCTCCAGGCTCGGCGGTGGGGCTGGGAGTGGTGCTAAGGGCCCAGGAGGAGGTCAAGGTGGGGCGTGGGAGACAGCCTCTGACGCTAGCCCTCCCCTCCTAGTCTGCTGCG	NP_001139134.1:n.1018-222_1018-34delinsTTCCCAACTAGTTTCCATCTCA...
NM_032638.4:c.1018-180_1026delinsTTCCCAACTAGTTTCCATCTCAAATTCTAAAATTCCTCGGTTTGAGATGCTTTGATTCCCCGGTAGGACCTATCGCTCCAGGCTCGGCGGTGGGGCTGGGAGTGGTGCTAAGGGCCCAGGAGGAGGTCAAGGTGGGGCGTGGGAGACAGCCTCTGACGCTAGCCCTCCCCTCCTAGTCTGCTGCG , LRG_295t2:c.1018-180_1026delinsTTCCCAACTAGTTTCCATCTCAAATTCTAAAATTCCTCGGTTTGAGATGCTTTGATTCCCCGGTAGGACCTATCGCTCCAGGCTCGGCGGTGGGGCTGGGAGTGGTGCTAAGGGCCCAGGAGGAGGTCAAGGTGGGGCGTGGGAGACAGCCTCTGACGCTAGCCCTCCCCTCCTAGTCTGCTGCG
NM_001145661.2:c.1018-180_1026delinsTTCCCAACTAGTTTCCATCTCAAATTCTAAAATTCCTCGGTTTGAGATGCTTTGATTCCCCGGTAGGACCTATCGCTCCAGGCTCGGCGGTGGGGCTGGGAGTGGTGCTAAGGGCCCAGGAGGAGGTCAAGGTGGGGCGTGGGAGACAGCCTCTGACGCTAGCCCTCCCCTCCTAGTCTGCTGCG
NM_032638.5:c.1018-180_1026delinsTTCCCAACTAGTTTCCATCTCAAATTCTAAAATTCCTCGGTTTGAGATGCTTTGATTCCCCGGTAGGACCTATCGCTCCAGGCTCGGCGGTGGGGCTGGGAGTGGTGCTAAGGGCCCAGGAGGAGGTCAAGGTGGGGCGTGGGAGACAGCCTCTGACGCTAGCCCTCCCCTCCTAGTCTGCTGCG