Canonical Allele Identifier: CA915941568

Gene: GATA2

Linked Data

• ClinVar Variation Id: 800688
• ClinVar RCV Id: RCV000984839
• dbSNP Id: rs1576748609

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128485970_128486044delinsAGCCCCCGTGGTGCTA , CM000665.2:g.128485970_128486044delinsAGCCCCCGTGGTGCTA	GRCh38
NC_000003.11:g.128204813_128204887delinsAGCCCCCGTGGTGCTA , CM000665.1:g.128204813_128204887delinsAGCCCCCGTGGTGCTA	GRCh37
NC_000003.10:g.129687503_129687577delinsAGCCCCCGTGGTGCTA	NCBI36
NG_029334.1:g.12144_12218delinsTAGCACCACGGGGGCT , LRG_295:g.12144_12218delinsTAGCACCACGGGGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.554_628delinsTAGCACCACGGGGGCT MANE Plus Clinical	ENSP00000417074.1:p.Pro185LeufsTer?
ENST00000696466.1:c.836_910delinsTAGCACCACGGGGGCT	ENSP00000512647.1:p.Pro279LeufsTer?
ENST00000341105.7:c.554_628delinsTAGCACCACGGGGGCT MANE Select	ENSP00000345681.2:p.Pro185LeufsTer?
ENST00000341105.6:c.554_628delinsTAGCACCACGGGGGCT	ENSP00000345681.2:p.Pro185LeufsTer?
ENST00000430265.6:c.554_628delinsTAGCACCACGGGGGCT	ENSP00000400259.2:p.Pro185LeufsTer?
ENST00000487848.5:c.554_628delinsTAGCACCACGGGGGCT	ENSP00000417074.1:p.Pro185LeufsTer?
NM_001145661.1:c.554_628delinsTAGCACCACGGGGGCT , LRG_295t1:c.554_628delinsTAGCACCACGGGGGCT	NP_001139133.1:p.Pro185LeufsTer?
NM_001145662.1:c.554_628delinsTAGCACCACGGGGGCT	NP_001139134.1:p.Pro185LeufsTer?
NM_032638.4:c.554_628delinsTAGCACCACGGGGGCT , LRG_295t2:c.554_628delinsTAGCACCACGGGGGCT	NP_116027.2:p.Pro185LeufsTer?
NM_001145661.2:c.554_628delinsTAGCACCACGGGGGCT MANE Plus Clinical	NP_001139133.1:p.Pro185LeufsTer?
NM_032638.5:c.554_628delinsTAGCACCACGGGGGCT MANE Select	NP_116027.2:p.Pro185LeufsTer?