Canonical Allele Identifier: CA891842733

Gene: GATA2

Linked Data

• ClinVar Variation Id: 566999
• ClinVar RCV Id: RCV000686956
• dbSNP Id: rs1559986109
• MyVariant Identifiers: chr3:g.128202817_128202830dup (hg19) ; chr3:g.128483974_128483987dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128483976_128483989dup , CM000665.2:g.128483976_128483989dup	GRCh38
NC_000003.11:g.128202819_128202832dup , CM000665.1:g.128202819_128202832dup	GRCh37
NC_000003.10:g.129685509_129685522dup	NCBI36
NG_029334.1:g.14201_14214dup , LRG_295:g.14201_14214dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.890_903dup MANE Plus Clinical	ENSP00000417074.1:p.Ala302ThrfsTer29
ENST00000696466.1:c.1172_1185dup	ENSP00000512647.1:p.Ala396ThrfsTer29
ENST00000341105.7:c.890_903dup MANE Select	ENSP00000345681.2:p.Ala302ThrfsTer29
ENST00000341105.6:c.890_903dup	ENSP00000345681.2:p.Ala302ThrfsTer29
ENST00000430265.6:c.890_903dup	ENSP00000400259.2:p.Ala302ThrfsTer29
ENST00000487848.5:c.890_903dup	ENSP00000417074.1:p.Ala302ThrfsTer29
NM_001145661.1:c.890_903dup , LRG_295t1:c.890_903dup	NP_001139133.1:p.Ala302ThrfsTer29
NM_001145662.1:c.890_903dup	NP_001139134.1:p.Ala302ThrfsTer29
NM_032638.4:c.890_903dup , LRG_295t2:c.890_903dup	NP_116027.2:p.Ala302ThrfsTer29
NM_001145661.2:c.890_903dup MANE Plus Clinical	NP_001139133.1:p.Ala302ThrfsTer29
NM_032638.5:c.890_903dup MANE Select	NP_116027.2:p.Ala302ThrfsTer29