Canonical Allele Identifier: CA1139532794

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184232
• ClinVar RCV Id: RCV001542212
• dbSNP Id: rs2107671965

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128485822_128485831dup , CM000665.2:g.128485822_128485831dup	GRCh38
NC_000003.11:g.128204665_128204674dup , CM000665.1:g.128204665_128204674dup	GRCh37
NC_000003.10:g.129687355_129687364dup	NCBI36
NG_029334.1:g.12359_12368dup , LRG_295:g.12359_12368dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.769_778dup MANE Plus Clinical	ENSP00000417074.1:p.Tyr260CysfsTer25
ENST00000696466.1:c.1051_1060dup	ENSP00000512647.1:p.Tyr354CysfsTer25
ENST00000341105.7:c.769_778dup MANE Select	ENSP00000345681.2:p.Tyr260CysfsTer25
ENST00000341105.6:c.769_778dup	ENSP00000345681.2:p.Tyr260CysfsTer25
ENST00000430265.6:c.769_778dup	ENSP00000400259.2:p.Tyr260CysfsTer25
ENST00000487848.5:c.769_778dup	ENSP00000417074.1:p.Tyr260CysfsTer25
NM_001145661.1:c.769_778dup , LRG_295t1:c.769_778dup	NP_001139133.1:p.Tyr260CysfsTer25
NM_001145662.1:c.769_778dup	NP_001139134.1:p.Tyr260CysfsTer25
NM_032638.4:c.769_778dup , LRG_295t2:c.769_778dup	NP_116027.2:p.Tyr260CysfsTer25
NM_001145661.2:c.769_778dup MANE Plus Clinical	NP_001139133.1:p.Tyr260CysfsTer25
NM_032638.5:c.769_778dup MANE Select	NP_116027.2:p.Tyr260CysfsTer25