Canonical Allele Identifier: CA2580068689

Gene: GATA2

Linked Data

• ClinVar Variation Id: 2183238
• ClinVar RCV Id: RCV002592426

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481051_128481052delinsTT , CM000665.2:g.128481051_128481052delinsTT	GRCh38
NC_000003.11:g.128199894_128199895delinsTT , CM000665.1:g.128199894_128199895delinsTT	GRCh37
NC_000003.10:g.129682584_129682585delinsTT	NCBI36
NG_029334.1:g.17136_17137delinsAA , LRG_295:g.17136_17137delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1410_1411delinsAA MANE Plus Clinical	ENSP00000417074.1:p.His471Asn
ENST00000696466.1:c.1692_1693delinsAA	ENSP00000512647.1:p.His565Asn
ENST00000696672.1:c.385_386delinsAA	ENSP00000512796.1:p.Pro129Lys
ENST00000341105.7:c.1410_1411delinsAA MANE Select	ENSP00000345681.2:p.His471Asn
ENST00000341105.6:c.1410_1411delinsAA	ENSP00000345681.2:p.His471Asn
ENST00000430265.6:c.1368_1369delinsAA	ENSP00000400259.2:p.His457Asn
ENST00000487848.5:c.1410_1411delinsAA	ENSP00000417074.1:p.His471Asn
ENST00000489987.1:n.527_528delinsAA
NM_001145661.1:c.1410_1411delinsAA , LRG_295t1:c.1410_1411delinsAA	NP_001139133.1:p.His471Asn
NM_001145662.1:c.1368_1369delinsAA	NP_001139134.1:p.His457Asn
NM_032638.4:c.1410_1411delinsAA , LRG_295t2:c.1410_1411delinsAA	NP_116027.2:p.His471Asn
NM_001145661.2:c.1410_1411delinsAA MANE Plus Clinical	NP_001139133.1:p.His471Asn
NM_032638.5:c.1410_1411delinsAA MANE Select	NP_116027.2:p.His471Asn