Canonical Allele Identifier: CA279032

Gene: GATA2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481837_128481840dup , CM000665.2:g.128481837_128481840dup	GRCh38
NC_000003.11:g.128200680_128200683dup , CM000665.1:g.128200680_128200683dup	GRCh37
NC_000003.10:g.129683370_129683373dup	NCBI36
NG_029334.1:g.16348_16351dup , LRG_295:g.16348_16351dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1122_1125dup MANE Plus Clinical	ENSP00000417074.1:p.Tyr376ProfsTer9
ENST00000696466.1:c.1404_1407dup	ENSP00000512647.1:p.Tyr470ProfsTer9
ENST00000696672.1:c.105_108dup	ENSP00000512796.1:p.Tyr37ProfsTer10
ENST00000341105.7:c.1122_1125dup MANE Select	ENSP00000345681.2:p.Tyr376ProfsTer9
ENST00000341105.6:c.1122_1125dup	ENSP00000345681.2:p.Tyr376ProfsTer9
ENST00000430265.6:c.1080_1083dup	ENSP00000400259.2:p.Tyr362ProfsTer9
ENST00000487848.5:c.1122_1125dup	ENSP00000417074.1:p.Tyr376ProfsTer9
ENST00000489987.1:n.239_242dup
NM_001145661.1:c.1122_1125dup , LRG_295t1:c.1122_1125dup	NP_001139133.1:p.Tyr376ProfsTer9
NM_001145662.1:c.1080_1083dup	NP_001139134.1:p.Tyr362ProfsTer9
NM_032638.4:c.1122_1125dup , LRG_295t2:c.1122_1125dup	NP_116027.2:p.Tyr376ProfsTer9
NM_001145661.2:c.1122_1125dup MANE Plus Clinical	NP_001139133.1:p.Tyr376ProfsTer9
NM_032638.5:c.1122_1125dup MANE Select	NP_116027.2:p.Tyr376ProfsTer9