Canonical Allele Identifier: CA2573136503

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1454317
• ClinVar RCV Id: RCV001941808
• dbSNP Id: rs2107672019

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128485847_128485848dup , CM000665.2:g.128485847_128485848dup	GRCh38
NC_000003.11:g.128204690_128204691dup , CM000665.1:g.128204690_128204691dup	GRCh37
NC_000003.10:g.129687380_129687381dup	NCBI36
NG_029334.1:g.12341_12342dup , LRG_295:g.12341_12342dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.751_752dup MANE Plus Clinical	ENSP00000417074.1:p.Tyr252ProfsTer?
ENST00000696466.1:c.1033_1034dup	ENSP00000512647.1:p.Tyr346ProfsTer?
ENST00000341105.7:c.751_752dup MANE Select	ENSP00000345681.2:p.Tyr252ProfsTer?
ENST00000341105.6:c.751_752dup	ENSP00000345681.2:p.Tyr252ProfsTer?
ENST00000430265.6:c.751_752dup	ENSP00000400259.2:p.Tyr252ProfsTer?
ENST00000487848.5:c.751_752dup	ENSP00000417074.1:p.Tyr252ProfsTer?
NM_001145661.1:c.751_752dup , LRG_295t1:c.751_752dup	NP_001139133.1:p.Tyr252ProfsTer?
NM_001145662.1:c.751_752dup	NP_001139134.1:p.Tyr252ProfsTer?
NM_032638.4:c.751_752dup , LRG_295t2:c.751_752dup	NP_116027.2:p.Tyr252ProfsTer?
NM_001145661.2:c.751_752dup MANE Plus Clinical	NP_001139133.1:p.Tyr252ProfsTer?
NM_032638.5:c.751_752dup MANE Select	NP_116027.2:p.Tyr252ProfsTer?