Canonical Allele Identifier: CA358694
Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 29714
dbSNP Id: rs869320735

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128486355delinsGC , CM000665.2:g.128486355delinsGC GRCh38
NC_000003.11:g.128205198delinsGC , CM000665.1:g.128205198delinsGC GRCh37
NC_000003.10:g.129687888delinsGC NCBI36
NG_029334.1:g.11833delinsGC , LRG_295:g.11833delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000487848.6:c.243delinsGC MANE Plus Clinical ENSP00000417074.1:p.Gly82ArgfsTer?
ENST00000696466.1:c.525delinsGC ENSP00000512647.1:p.Gly176ArgfsTer?
ENST00000341105.7:c.243delinsGC MANE Select ENSP00000345681.2:p.Gly82ArgfsTer?
ENST00000341105.6:c.243delinsGC ENSP00000345681.2:p.Gly82ArgfsTer?
ENST00000430265.6:c.243delinsGC ENSP00000400259.2:p.Gly82ArgfsTer?
ENST00000487848.5:c.243delinsGC ENSP00000417074.1:p.Gly82ArgfsTer?
ENST00000492608.1:c.243delinsGC ENSP00000418132.1:p.Gly82ArgfsTer?
NM_001145661.1:c.243delinsGC , LRG_295t1:c.243delinsGC NP_001139133.1:p.Gly82ArgfsTer?
NM_001145662.1:c.243delinsGC NP_001139134.1:p.Gly82ArgfsTer?
NM_032638.4:c.243delinsGC , LRG_295t2:c.243delinsGC NP_116027.2:p.Gly82ArgfsTer?
NM_001145661.2:c.243delinsGC MANE Plus Clinical NP_001139133.1:p.Gly82ArgfsTer?
NM_032638.5:c.243delinsGC MANE Select NP_116027.2:p.Gly82ArgfsTer?