Canonical Allele Identifier: CA915941556

Gene: GATA2

Linked Data

• ClinVar Variation Id: 800675
• ClinVar RCV Id: RCV000984818
• dbSNP Id: rs1576745241

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481906_128481926dup , CM000665.2:g.128481906_128481926dup	GRCh38
NC_000003.11:g.128200749_128200769dup , CM000665.1:g.128200749_128200769dup	GRCh37
NC_000003.10:g.129683439_129683459dup	NCBI36
NG_029334.1:g.16262_16282dup , LRG_295:g.16262_16282dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1036_1056dup MANE Plus Clinical	ENSP00000417074.1:p.Cys352_Gln353insGlyThrCysCysAlaAsnCys
ENST00000696466.1:c.1318_1338dup	ENSP00000512647.1:p.Cys446_Gln447insGlyThrCysCysAlaAsnCys
ENST00000696672.1:c.19_39dup	ENSP00000512796.1:p.Cys13_Gln14insGlyThrCysCysAlaAsnCys
ENST00000341105.7:c.1036_1056dup MANE Select	ENSP00000345681.2:p.Cys352_Gln353insGlyThrCysCysAlaAsnCys
ENST00000341105.6:c.1036_1056dup	ENSP00000345681.2:p.Cys352_Gln353insGlyThrCysCysAlaAsnCys
ENST00000430265.6:c.1018-24_1018-4dup	ENSP00000400259.2:n.1018-24_1018-4dup
ENST00000487848.5:c.1036_1056dup	ENSP00000417074.1:p.Cys352_Gln353insGlyThrCysCysAlaAsnCys
ENST00000489987.1:n.153_173dup
NM_001145661.1:c.1036_1056dup , LRG_295t1:c.1036_1056dup	NP_001139133.1:p.Cys352_Gln353insGlyThrCysCysAlaAsnCys
NM_001145662.1:c.1018-24_1018-4dup	NP_001139134.1:n.1018-24_1018-4dup
NM_032638.4:c.1036_1056dup , LRG_295t2:c.1036_1056dup	NP_116027.2:p.Cys352_Gln353insGlyThrCysCysAlaAsnCys
NM_001145661.2:c.1036_1056dup MANE Plus Clinical	NP_001139133.1:p.Cys352_Gln353insGlyThrCysCysAlaAsnCys
NM_032638.5:c.1036_1056dup MANE Select	NP_116027.2:p.Cys352_Gln353insGlyThrCysCysAlaAsnCys