Canonical Allele Identifier: CA2758339639

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481102_128481121del , CM000665.2:g.128481102_128481121del	GRCh38
NC_000003.11:g.128199945_128199964del , CM000665.1:g.128199945_128199964del	GRCh37
NC_000003.10:g.129682635_129682654del	NCBI36
NG_029334.1:g.17075_17094del , LRG_295:g.17075_17094del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1349_1368del MANE Plus Clinical	ENSP00000417074.1:p.Gly450AspfsTer?
ENST00000696466.1:c.1631_1650del	ENSP00000512647.1:p.Gly544AspfsTer?
ENST00000696672.1:c.324_343del	ENSP00000512796.1:p.Thr109ArgfsTer20
ENST00000341105.7:c.1349_1368del MANE Select	ENSP00000345681.2:p.Gly450AspfsTer?
ENST00000341105.6:c.1349_1368del	ENSP00000345681.2:p.Gly450AspfsTer?
ENST00000430265.6:c.1307_1326del	ENSP00000400259.2:p.Gly436AspfsTer?
ENST00000487848.5:c.1349_1368del	ENSP00000417074.1:p.Gly450AspfsTer?
ENST00000489987.1:n.466_485del
NM_001145661.1:c.1349_1368del , LRG_295t1:c.1349_1368del	NP_001139133.1:p.Gly450AspfsTer?
NM_001145662.1:c.1307_1326del	NP_001139134.1:p.Gly436AspfsTer?
NM_032638.4:c.1349_1368del , LRG_295t2:c.1349_1368del	NP_116027.2:p.Gly450AspfsTer?
NM_001145661.2:c.1349_1368del MANE Plus Clinical	NP_001139133.1:p.Gly450AspfsTer?
NM_032638.5:c.1349_1368del MANE Select	NP_116027.2:p.Gly450AspfsTer?