Canonical Allele Identifier: CA2573136504

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1480871
• ClinVar RCV Id: RCV001988169
• dbSNP Id: rs2107668060

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481282_128481293del , CM000665.2:g.128481282_128481293del	GRCh38
NC_000003.11:g.128200125_128200136del , CM000665.1:g.128200125_128200136del	GRCh37
NC_000003.10:g.129682815_129682826del	NCBI36
NG_029334.1:g.16897_16908del , LRG_295:g.16897_16908del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1171_1182del MANE Plus Clinical	ENSP00000417074.1:p.Glu391_Gln394del
ENST00000696466.1:c.1453_1464del	ENSP00000512647.1:p.Glu485_Gln488del
ENST00000696672.1:c.146_157del	ENSP00000512796.1:p.Gly49_Pro52del
ENST00000341105.7:c.1171_1182del MANE Select	ENSP00000345681.2:p.Glu391_Gln394del
ENST00000341105.6:c.1171_1182del	ENSP00000345681.2:p.Glu391_Gln394del
ENST00000430265.6:c.1129_1140del	ENSP00000400259.2:p.Glu377_Gln380del
ENST00000487848.5:c.1171_1182del	ENSP00000417074.1:p.Glu391_Gln394del
ENST00000489987.1:n.288_299del
NM_001145661.1:c.1171_1182del , LRG_295t1:c.1171_1182del	NP_001139133.1:p.Glu391_Gln394del
NM_001145662.1:c.1129_1140del	NP_001139134.1:p.Glu377_Gln380del
NM_032638.4:c.1171_1182del , LRG_295t2:c.1171_1182del	NP_116027.2:p.Glu391_Gln394del
NM_001145661.2:c.1171_1182del MANE Plus Clinical	NP_001139133.1:p.Glu391_Gln394del
NM_032638.5:c.1171_1182del MANE Select	NP_116027.2:p.Glu391_Gln394del