Canonical Allele Identifier: CA1139532783

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184204
• ClinVar RCV Id: RCV001542177
• dbSNP Id: rs2107672730

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128486195dup , CM000665.2:g.128486195dup	GRCh38
NC_000003.11:g.128205038dup , CM000665.1:g.128205038dup	GRCh37
NC_000003.10:g.129687728dup	NCBI36
NG_029334.1:g.11994dup , LRG_295:g.11994dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.404dup MANE Plus Clinical	ENSP00000417074.1:p.Gly136ArgfsTer?
ENST00000696466.1:c.686dup	ENSP00000512647.1:p.Gly230ArgfsTer?
ENST00000341105.7:c.404dup MANE Select	ENSP00000345681.2:p.Gly136ArgfsTer?
ENST00000341105.6:c.404dup	ENSP00000345681.2:p.Gly136ArgfsTer?
ENST00000430265.6:c.404dup	ENSP00000400259.2:p.Gly136ArgfsTer?
ENST00000487848.5:c.404dup	ENSP00000417074.1:p.Gly136ArgfsTer?
ENST00000492608.1:c.404dup	ENSP00000418132.1:p.Gly136ArgfsTer?
NM_001145661.1:c.404dup , LRG_295t1:c.404dup	NP_001139133.1:p.Gly136ArgfsTer?
NM_001145662.1:c.404dup	NP_001139134.1:p.Gly136ArgfsTer?
NM_032638.4:c.404dup , LRG_295t2:c.404dup	NP_116027.2:p.Gly136ArgfsTer?
NM_001145661.2:c.404dup MANE Plus Clinical	NP_001139133.1:p.Gly136ArgfsTer?
NM_032638.5:c.404dup MANE Select	NP_116027.2:p.Gly136ArgfsTer?