Canonical Allele Identifier: CA2580068744

Gene: GATA2

Linked Data

• ClinVar Variation Id: 2442796
• ClinVar RCV Id: RCV003150602

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128485851del , CM000665.2:g.128485851del	GRCh38
NC_000003.11:g.128204694del , CM000665.1:g.128204694del	GRCh37
NC_000003.10:g.129687384del	NCBI36
NG_029334.1:g.12340del , LRG_295:g.12340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.750del MANE Plus Clinical	ENSP00000417074.1:p.Ser251ProfsTer?
ENST00000696466.1:c.1032del	ENSP00000512647.1:p.Ser345ProfsTer?
ENST00000341105.7:c.750del MANE Select	ENSP00000345681.2:p.Ser251ProfsTer?
ENST00000341105.6:c.750del	ENSP00000345681.2:p.Ser251ProfsTer?
ENST00000430265.6:c.750del	ENSP00000400259.2:p.Ser251ProfsTer?
ENST00000487848.5:c.750del	ENSP00000417074.1:p.Ser251ProfsTer?
NM_001145661.1:c.750del , LRG_295t1:c.750del	NP_001139133.1:p.Ser251ProfsTer?
NM_001145662.1:c.750del	NP_001139134.1:p.Ser251ProfsTer?
NM_032638.4:c.750del , LRG_295t2:c.750del	NP_116027.2:p.Ser251ProfsTer?
NM_001145661.2:c.750del MANE Plus Clinical	NP_001139133.1:p.Ser251ProfsTer?
NM_032638.5:c.750del MANE Select	NP_116027.2:p.Ser251ProfsTer?