Canonical Allele Identifier: CA1400719033

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1417964
• ClinVar RCV Id: RCV001940310
• dbSNP Id: rs2068686773

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128485803_128485804insCCCCCGGGGTGG , CM000665.2:g.128485803_128485804insCCCCCGGGGTGG	GRCh38
NC_000003.11:g.128204646_128204647insCCCCCGGGGTGG , CM000665.1:g.128204646_128204647insCCCCCGGGGTGG	GRCh37
NC_000003.10:g.129687336_129687337insCCCCCGGGGTGG	NCBI36
NG_029334.1:g.12393_12394insGGGCCACCCCGG , LRG_295:g.12393_12394insGGGCCACCCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.803_804insGGGCCACCCCGG MANE Plus Clinical	ENSP00000417074.1:p.Gly268_Gly269insGlyHisProGly
ENST00000696466.1:c.1085_1086insGGGCCACCCCGG	ENSP00000512647.1:p.Gly362_Gly363insGlyHisProGly
ENST00000341105.7:c.803_804insGGGCCACCCCGG MANE Select	ENSP00000345681.2:p.Gly268_Gly269insGlyHisProGly
ENST00000341105.6:c.803_804insGGGCCACCCCGG	ENSP00000345681.2:p.Gly268_Gly269insGlyHisProGly
ENST00000430265.6:c.803_804insGGGCCACCCCGG	ENSP00000400259.2:p.Gly268_Gly269insGlyHisProGly
ENST00000487848.5:c.803_804insGGGCCACCCCGG	ENSP00000417074.1:p.Gly268_Gly269insGlyHisProGly
NM_001145661.1:c.803_804insGGGCCACCCCGG , LRG_295t1:c.803_804insGGGCCACCCCGG	NP_001139133.1:p.Gly268_Gly269insGlyHisProGly
NM_001145662.1:c.803_804insGGGCCACCCCGG	NP_001139134.1:p.Gly268_Gly269insGlyHisProGly
NM_032638.4:c.803_804insGGGCCACCCCGG , LRG_295t2:c.803_804insGGGCCACCCCGG	NP_116027.2:p.Gly268_Gly269insGlyHisProGly
NM_001145661.2:c.803_804insGGGCCACCCCGG MANE Plus Clinical	NP_001139133.1:p.Gly268_Gly269insGlyHisProGly
NM_032638.5:c.803_804insGGGCCACCCCGG MANE Select	NP_116027.2:p.Gly268_Gly269insGlyHisProGly