Canonical Allele Identifier: CA2703922380

Gene: GATA2

Linked Data

• dbSNP Id: rs2107667817

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481135_128481140del , CM000665.2:g.128481135_128481140del	GRCh38
NC_000003.11:g.128199978_128199983del , CM000665.1:g.128199978_128199983del	GRCh37
NC_000003.10:g.129682668_129682673del	NCBI36
NG_029334.1:g.17048_17053del , LRG_295:g.17048_17053del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1322_1327del MANE Plus Clinical	ENSP00000417074.1:p.Gly441_Leu443delinsVal
ENST00000696466.1:c.1604_1609del	ENSP00000512647.1:p.Gly535_Leu537delinsVal
ENST00000696672.1:c.297_302del	ENSP00000512796.1:p.Pro100_Pro101del
ENST00000341105.7:c.1322_1327del MANE Select	ENSP00000345681.2:p.Gly441_Leu443delinsVal
ENST00000341105.6:c.1322_1327del	ENSP00000345681.2:p.Gly441_Leu443delinsVal
ENST00000430265.6:c.1280_1285del	ENSP00000400259.2:p.Gly427_Leu429delinsVal
ENST00000487848.5:c.1322_1327del	ENSP00000417074.1:p.Gly441_Leu443delinsVal
ENST00000489987.1:n.439_444del
NM_001145661.1:c.1322_1327del , LRG_295t1:c.1322_1327del	NP_001139133.1:p.Gly441_Leu443delinsVal
NM_001145662.1:c.1280_1285del	NP_001139134.1:p.Gly427_Leu429delinsVal
NM_032638.4:c.1322_1327del , LRG_295t2:c.1322_1327del	NP_116027.2:p.Gly441_Leu443delinsVal
NM_001145661.2:c.1322_1327del MANE Plus Clinical	NP_001139133.1:p.Gly441_Leu443delinsVal
NM_032638.5:c.1322_1327del MANE Select	NP_116027.2:p.Gly441_Leu443delinsVal