Canonical Allele Identifier: CA2580068691

Gene: GATA2

Linked Data

• ClinVar Variation Id: 2011603
• ClinVar RCV Id: RCV002838535

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481155_128481156insTGGA , CM000665.2:g.128481155_128481156insTGGA	GRCh38
NC_000003.11:g.128199998_128199999insTGGA , CM000665.1:g.128199998_128199999insTGGA	GRCh37
NC_000003.10:g.129682688_129682689insTGGA	NCBI36
NG_029334.1:g.17032_17033insTCCA , LRG_295:g.17032_17033insTCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1306_1307insTCCA MANE Plus Clinical	ENSP00000417074.1:p.His436LeufsTer?
ENST00000696466.1:c.1588_1589insTCCA	ENSP00000512647.1:p.His530LeufsTer?
ENST00000696672.1:c.281_282insTCCA	ENSP00000512796.1:p.His95ProfsTer?
ENST00000341105.7:c.1306_1307insTCCA MANE Select	ENSP00000345681.2:p.His436LeufsTer?
ENST00000341105.6:c.1306_1307insTCCA	ENSP00000345681.2:p.His436LeufsTer?
ENST00000430265.6:c.1264_1265insTCCA	ENSP00000400259.2:p.His422LeufsTer?
ENST00000487848.5:c.1306_1307insTCCA	ENSP00000417074.1:p.His436LeufsTer?
ENST00000489987.1:n.423_424insTCCA
NM_001145661.1:c.1306_1307insTCCA , LRG_295t1:c.1306_1307insTCCA	NP_001139133.1:p.His436LeufsTer?
NM_001145662.1:c.1264_1265insTCCA	NP_001139134.1:p.His422LeufsTer?
NM_032638.4:c.1306_1307insTCCA , LRG_295t2:c.1306_1307insTCCA	NP_116027.2:p.His436LeufsTer?
NM_001145661.2:c.1306_1307insTCCA MANE Plus Clinical	NP_001139133.1:p.His436LeufsTer?
NM_032638.5:c.1306_1307insTCCA MANE Select	NP_116027.2:p.His436LeufsTer?