Canonical Allele Identifier: CA915941570

Gene: GATA2

Linked Data

• ClinVar Variation Id: 800686
• ClinVar RCV Id: RCV000984837 ; RCV003444729
• dbSNP Id: rs1576749014

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128486189_128486193delinsTAC , CM000665.2:g.128486189_128486193delinsTAC	GRCh38
NC_000003.11:g.128205032_128205036delinsTAC , CM000665.1:g.128205032_128205036delinsTAC	GRCh37
NC_000003.10:g.129687722_129687726delinsTAC	NCBI36
NG_029334.1:g.11995_11999delinsGTA , LRG_295:g.11995_11999delinsGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.405_409delinsGTA MANE Plus Clinical	ENSP00000417074.1:p.Gly136TyrfsTer?
ENST00000696466.1:c.687_691delinsGTA	ENSP00000512647.1:p.Gly230TyrfsTer?
ENST00000341105.7:c.405_409delinsGTA MANE Select	ENSP00000345681.2:p.Gly136TyrfsTer?
ENST00000341105.6:c.405_409delinsGTA	ENSP00000345681.2:p.Gly136TyrfsTer?
ENST00000430265.6:c.405_409delinsGTA	ENSP00000400259.2:p.Gly136TyrfsTer?
ENST00000487848.5:c.405_409delinsGTA	ENSP00000417074.1:p.Gly136TyrfsTer?
ENST00000492608.1:c.405_409delinsGTA	ENSP00000418132.1:p.Gly136TyrfsTer?
NM_001145661.1:c.405_409delinsGTA , LRG_295t1:c.405_409delinsGTA	NP_001139133.1:p.Gly136TyrfsTer?
NM_001145662.1:c.405_409delinsGTA	NP_001139134.1:p.Gly136TyrfsTer?
NM_032638.4:c.405_409delinsGTA , LRG_295t2:c.405_409delinsGTA	NP_116027.2:p.Gly136TyrfsTer?
NM_001145661.2:c.405_409delinsGTA MANE Plus Clinical	NP_001139133.1:p.Gly136TyrfsTer?
NM_032638.5:c.405_409delinsGTA MANE Select	NP_116027.2:p.Gly136TyrfsTer?