Canonical Allele Identifier: CA2499216429

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184164
• ClinVar RCV Id: RCV001542128
• dbSNP Id: rs2107668588

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481832_128481846del , CM000665.2:g.128481832_128481846del	GRCh38
NC_000003.11:g.128200675_128200689del , CM000665.1:g.128200675_128200689del	GRCh37
NC_000003.10:g.129683365_129683379del	NCBI36
NG_029334.1:g.16343_16357del , LRG_295:g.16343_16357del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1117_1131del MANE Plus Clinical	ENSP00000417074.1:p.Cys373_Tyr377del
ENST00000696466.1:c.1399_1413del	ENSP00000512647.1:p.Cys467_Tyr471del
ENST00000696672.1:c.100_114del	ENSP00000512796.1:p.Cys34_Tyr38del
ENST00000341105.7:c.1117_1131del MANE Select	ENSP00000345681.2:p.Cys373_Tyr377del
ENST00000341105.6:c.1117_1131del	ENSP00000345681.2:p.Cys373_Tyr377del
ENST00000430265.6:c.1075_1089del	ENSP00000400259.2:p.Cys359_Tyr363del
ENST00000487848.5:c.1117_1131del	ENSP00000417074.1:p.Cys373_Tyr377del
ENST00000489987.1:n.234_248del
NM_001145661.1:c.1117_1131del , LRG_295t1:c.1117_1131del	NP_001139133.1:p.Cys373_Tyr377del
NM_001145662.1:c.1075_1089del	NP_001139134.1:p.Cys359_Tyr363del
NM_032638.4:c.1117_1131del , LRG_295t2:c.1117_1131del	NP_116027.2:p.Cys373_Tyr377del
NM_001145661.2:c.1117_1131del MANE Plus Clinical	NP_001139133.1:p.Cys373_Tyr377del
NM_032638.5:c.1117_1131del MANE Select	NP_116027.2:p.Cys373_Tyr377del