Canonical Allele Identifier: CA2586965857

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481843_128481845delinsCCC , CM000665.2:g.128481843_128481845delinsCCC	GRCh38
NC_000003.11:g.128200686_128200688delinsCCC , CM000665.1:g.128200686_128200688delinsCCC	GRCh37
NC_000003.10:g.129683376_129683378delinsCCC	NCBI36
NG_029334.1:g.16343_16345delinsGGG , LRG_295:g.16343_16345delinsGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.1117_1119delinsGGG MANE Plus Clinical	ENSP00000417074.1:p.Cys373Gly
ENST00000696466.1:c.1399_1401delinsGGG	ENSP00000512647.1:p.Cys467Gly
ENST00000696672.1:c.100_102delinsGGG	ENSP00000512796.1:p.Cys34Gly
ENST00000341105.7:c.1117_1119delinsGGG MANE Select	ENSP00000345681.2:p.Cys373Gly
ENST00000341105.6:c.1117_1119delinsGGG	ENSP00000345681.2:p.Cys373Gly
ENST00000430265.6:c.1075_1077delinsGGG	ENSP00000400259.2:p.Cys359Gly
ENST00000487848.5:c.1117_1119delinsGGG	ENSP00000417074.1:p.Cys373Gly
ENST00000489987.1:n.234_236delinsGGG
NM_001145661.1:c.1117_1119delinsGGG , LRG_295t1:c.1117_1119delinsGGG	NP_001139133.1:p.Cys373Gly
NM_001145662.1:c.1075_1077delinsGGG	NP_001139134.1:p.Cys359Gly
NM_032638.4:c.1117_1119delinsGGG , LRG_295t2:c.1117_1119delinsGGG	NP_116027.2:p.Cys373Gly
NM_001145661.2:c.1117_1119delinsGGG MANE Plus Clinical	NP_001139133.1:p.Cys373Gly
NM_032638.5:c.1117_1119delinsGGG MANE Select	NP_116027.2:p.Cys373Gly