Canonical Allele Identifier: CA2499216451

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184217
• ClinVar RCV Id: RCV001542194
• dbSNP Id: rs2107668832

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481936_128481937insCGGC , CM000665.2:g.128481936_128481937insCGGC	GRCh38
NC_000003.11:g.128200779_128200780insCGGC , CM000665.1:g.128200779_128200780insCGGC	GRCh37
NC_000003.10:g.129683469_129683470insCGGC	NCBI36
NG_029334.1:g.16251_16252insGCCG , LRG_295:g.16251_16252insGCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1025_1026insGCCG MANE Plus Clinical	ENSP00000417074.1:p.Arg343ProfsTer?
ENST00000696466.1:c.1307_1308insGCCG	ENSP00000512647.1:p.Arg437ProfsTer?
ENST00000696672.1:c.8_9insGCCG	ENSP00000512796.1:p.Arg4ProfsTer?
ENST00000341105.7:c.1025_1026insGCCG MANE Select	ENSP00000345681.2:p.Arg343ProfsTer?
ENST00000341105.6:c.1025_1026insGCCG	ENSP00000345681.2:p.Arg343ProfsTer?
ENST00000430265.6:c.1018-35_1018-34insGCCG	ENSP00000400259.2:n.1018-35_1018-34insGCCG
ENST00000487848.5:c.1025_1026insGCCG	ENSP00000417074.1:p.Arg343ProfsTer?
ENST00000489987.1:n.142_143insGCCG
NM_001145661.1:c.1025_1026insGCCG , LRG_295t1:c.1025_1026insGCCG	NP_001139133.1:p.Arg343ProfsTer?
NM_001145662.1:c.1018-35_1018-34insGCCG	NP_001139134.1:n.1018-35_1018-34insGCCG
NM_032638.4:c.1025_1026insGCCG , LRG_295t2:c.1025_1026insGCCG	NP_116027.2:p.Arg343ProfsTer?
NM_001145661.2:c.1025_1026insGCCG MANE Plus Clinical	NP_001139133.1:p.Arg343ProfsTer?
NM_032638.5:c.1025_1026insGCCG MANE Select	NP_116027.2:p.Arg343ProfsTer?