Canonical Allele Identifier: CA2499216459

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184149
• ClinVar RCV Id: RCV001542107
• dbSNP Id: rs2107670366

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128483909dup , CM000665.2:g.128483909dup	GRCh38
NC_000003.11:g.128202752dup , CM000665.1:g.128202752dup	GRCh37
NC_000003.10:g.129685442dup	NCBI36
NG_029334.1:g.14279dup , LRG_295:g.14279dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.968dup MANE Plus Clinical	ENSP00000417074.1:p.His323GlnfsTer?
ENST00000696466.1:c.1250dup	ENSP00000512647.1:p.His417GlnfsTer?
ENST00000341105.7:c.968dup MANE Select	ENSP00000345681.2:p.His323GlnfsTer?
ENST00000341105.6:c.968dup	ENSP00000345681.2:p.His323GlnfsTer?
ENST00000430265.6:c.968dup	ENSP00000400259.2:p.His323GlnfsTer?
ENST00000487848.5:c.968dup	ENSP00000417074.1:p.His323GlnfsTer?
NM_001145661.1:c.968dup , LRG_295t1:c.968dup	NP_001139133.1:p.His323GlnfsTer?
NM_001145662.1:c.968dup	NP_001139134.1:p.His323GlnfsTer?
NM_032638.4:c.968dup , LRG_295t2:c.968dup	NP_116027.2:p.His323GlnfsTer?
NM_001145661.2:c.968dup MANE Plus Clinical	NP_001139133.1:p.His323GlnfsTer?
NM_032638.5:c.968dup MANE Select	NP_116027.2:p.His323GlnfsTer?