Canonical Allele Identifier: CA1400719445

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128486187_128486196delinsTGGGCCTCCA , CM000665.2:g.128486187_128486196delinsTGGGCCTCCA	GRCh38
NC_000003.11:g.128205030_128205039delinsTGGGCCTCCA , CM000665.1:g.128205030_128205039delinsTGGGCCTCCA	GRCh37
NC_000003.10:g.129687720_129687729delinsTGGGCCTCCA	NCBI36
NG_029334.1:g.11992_12001delinsTGGAGGCCCA , LRG_295:g.11992_12001delinsTGGAGGCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.402_411delinsTGGAGGCCCA MANE Plus Clinical	ENSP00000417074.1:p.Pro134=
ENST00000696466.1:c.684_693delinsTGGAGGCCCA	ENSP00000512647.1:p.Pro228=
ENST00000341105.7:c.402_411delinsTGGAGGCCCA MANE Select	ENSP00000345681.2:p.Pro134=
ENST00000341105.6:c.402_411delinsTGGAGGCCCA	ENSP00000345681.2:p.Pro134=
ENST00000430265.6:c.402_411delinsTGGAGGCCCA	ENSP00000400259.2:p.Pro134=
ENST00000487848.5:c.402_411delinsTGGAGGCCCA	ENSP00000417074.1:p.Pro134=
ENST00000492608.1:c.402_411delinsTGGAGGCCCA	ENSP00000418132.1:p.Pro134=
NM_001145661.1:c.402_411delinsTGGAGGCCCA , LRG_295t1:c.402_411delinsTGGAGGCCCA	NP_001139133.1:p.Pro134=
NM_001145662.1:c.402_411delinsTGGAGGCCCA	NP_001139134.1:p.Pro134=
NM_032638.4:c.402_411delinsTGGAGGCCCA , LRG_295t2:c.402_411delinsTGGAGGCCCA	NP_116027.2:p.Pro134=
NM_001145661.2:c.402_411delinsTGGAGGCCCA MANE Plus Clinical	NP_001139133.1:p.Pro134=
NM_032638.5:c.402_411delinsTGGAGGCCCA MANE Select	NP_116027.2:p.Pro134=