Canonical Allele Identifier: CA2580068754

Gene: GATA2

Linked Data

• ClinVar Variation Id: 2027087
• ClinVar RCV Id: RCV002871688

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128486309_128486310del , CM000665.2:g.128486309_128486310del	GRCh38
NC_000003.11:g.128205152_128205153del , CM000665.1:g.128205152_128205153del	GRCh37
NC_000003.10:g.129687842_129687843del	NCBI36
NG_029334.1:g.11878_11879del , LRG_295:g.11878_11879del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.288_289del MANE Plus Clinical	ENSP00000417074.1:p.Trp97AlafsTer?
ENST00000696466.1:c.570_571del	ENSP00000512647.1:p.Trp191AlafsTer?
ENST00000341105.7:c.288_289del MANE Select	ENSP00000345681.2:p.Trp97AlafsTer?
ENST00000341105.6:c.288_289del	ENSP00000345681.2:p.Trp97AlafsTer?
ENST00000430265.6:c.288_289del	ENSP00000400259.2:p.Trp97AlafsTer?
ENST00000487848.5:c.288_289del	ENSP00000417074.1:p.Trp97AlafsTer?
ENST00000492608.1:c.288_289del	ENSP00000418132.1:p.Trp97AlafsTer?
NM_001145661.1:c.288_289del , LRG_295t1:c.288_289del	NP_001139133.1:p.Trp97AlafsTer?
NM_001145662.1:c.288_289del	NP_001139134.1:p.Trp97AlafsTer?
NM_032638.4:c.288_289del , LRG_295t2:c.288_289del	NP_116027.2:p.Trp97AlafsTer?
NM_001145661.2:c.288_289del MANE Plus Clinical	NP_001139133.1:p.Trp97AlafsTer?
NM_032638.5:c.288_289del MANE Select	NP_116027.2:p.Trp97AlafsTer?