Canonical Allele Identifier: CA915940816

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184016
• ClinVar RCV Id: RCV001541961 ; RCV002508316 ; RCV002466683
• dbSNP Id: rs2107667819

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481137_128481140dup , CM000665.2:g.128481137_128481140dup	GRCh38
NC_000003.11:g.128199980_128199983dup , CM000665.1:g.128199980_128199983dup	GRCh37
NC_000003.10:g.129682670_129682673dup	NCBI36
NG_029334.1:g.17048_17051dup , LRG_295:g.17048_17051dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1322_1325dup MANE Plus Clinical	ENSP00000417074.1:p.His442GlnfsTer?
ENST00000696466.1:c.1604_1607dup	ENSP00000512647.1:p.His536GlnfsTer?
ENST00000696672.1:c.297_300dup	ENSP00000512796.1:p.Pro101AlafsTer?
ENST00000341105.7:c.1322_1325dup MANE Select	ENSP00000345681.2:p.His442GlnfsTer?
ENST00000341105.6:c.1322_1325dup	ENSP00000345681.2:p.His442GlnfsTer?
ENST00000430265.6:c.1280_1283dup	ENSP00000400259.2:p.His428GlnfsTer?
ENST00000487848.5:c.1322_1325dup	ENSP00000417074.1:p.His442GlnfsTer?
ENST00000489987.1:n.439_442dup
NM_001145661.1:c.1322_1325dup , LRG_295t1:c.1322_1325dup	NP_001139133.1:p.His442GlnfsTer?
NM_001145662.1:c.1280_1283dup	NP_001139134.1:p.His428GlnfsTer?
NM_032638.4:c.1322_1325dup , LRG_295t2:c.1322_1325dup	NP_116027.2:p.His442GlnfsTer?
NM_001145661.2:c.1322_1325dup MANE Plus Clinical	NP_001139133.1:p.His442GlnfsTer?
NM_032638.5:c.1322_1325dup MANE Select	NP_116027.2:p.His442GlnfsTer?