Canonical Allele Identifier: CA1400719637
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128486561_128486562delinsAG , CM000665.2:g.128486561_128486562delinsAG GRCh38
NC_000003.11:g.128205404_128205405delinsAG , CM000665.1:g.128205404_128205405delinsAG GRCh37
NC_000003.10:g.129688094_129688095delinsAG NCBI36
NG_029334.1:g.11626_11627delinsCT , LRG_295:g.11626_11627delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.230-194_230-193delinsCT MANE Plus Clinical ENSP00000417074.1:n.230-194_230-193delinsCT
ENST00000696466.1:c.512-194_512-193delinsCT ENSP00000512647.1:n.512-194_512-193delinsCT
ENST00000341105.7:c.230-194_230-193delinsCT MANE Select ENSP00000345681.2:n.230-194_230-193delinsCT
ENST00000341105.6:c.230-194_230-193delinsCT ENSP00000345681.2:n.230-194_230-193delinsCT
ENST00000430265.6:c.230-194_230-193delinsCT ENSP00000400259.2:n.230-194_230-193delinsCT
ENST00000487848.5:c.230-194_230-193delinsCT ENSP00000417074.1:n.230-194_230-193delinsCT
ENST00000492608.1:c.230-194_230-193delinsCT ENSP00000418132.1:n.230-194_230-193delinsCT
NM_001145661.1:c.230-194_230-193delinsCT , LRG_295t1:c.230-194_230-193delinsCT NP_001139133.1:n.230-194_230-193delinsCT
NM_001145662.1:c.230-194_230-193delinsCT NP_001139134.1:n.230-194_230-193delinsCT
NM_032638.4:c.230-194_230-193delinsCT , LRG_295t2:c.230-194_230-193delinsCT NP_116027.2:n.230-194_230-193delinsCT
NM_001145661.2:c.230-194_230-193delinsCT MANE Plus Clinical NP_001139133.1:n.230-194_230-193delinsCT
NM_032638.5:c.230-194_230-193delinsCT MANE Select NP_116027.2:n.230-194_230-193delinsCT