Canonical Allele Identifier: CA658820607

Gene: GATA2

Linked Data

• ClinVar Variation Id: 29717
• ClinVar RCV Id: RCV000022569 ; RCV001542142
• dbSNP Id: rs1576749168

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128486286_128486287dup , CM000665.2:g.128486286_128486287dup	GRCh38
NC_000003.11:g.128205129_128205130dup , CM000665.1:g.128205129_128205130dup	GRCh37
NC_000003.10:g.129687819_129687820dup	NCBI36
NG_029334.1:g.11902_11903dup , LRG_295:g.11902_11903dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.312_313dup MANE Plus Clinical	ENSP00000417074.1:p.Leu105ProfsTer15
ENST00000696466.1:c.594_595dup	ENSP00000512647.1:p.Leu199ProfsTer15
ENST00000341105.7:c.312_313dup MANE Select	ENSP00000345681.2:p.Leu105ProfsTer15
ENST00000341105.6:c.312_313dup	ENSP00000345681.2:p.Leu105ProfsTer15
ENST00000430265.6:c.312_313dup	ENSP00000400259.2:p.Leu105ProfsTer15
ENST00000487848.5:c.312_313dup	ENSP00000417074.1:p.Leu105ProfsTer15
ENST00000492608.1:c.312_313dup	ENSP00000418132.1:p.Leu105ProfsTer15
NM_001145661.1:c.312_313dup , LRG_295t1:c.312_313dup	NP_001139133.1:p.Leu105ProfsTer15
NM_001145662.1:c.312_313dup	NP_001139134.1:p.Leu105ProfsTer15
NM_032638.4:c.312_313dup , LRG_295t2:c.312_313dup	NP_116027.2:p.Leu105ProfsTer15
NM_001145661.2:c.312_313dup MANE Plus Clinical	NP_001139133.1:p.Leu105ProfsTer15
NM_032638.5:c.312_313dup MANE Select	NP_116027.2:p.Leu105ProfsTer15