Canonical Allele Identifier: CA1400719091
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128485817_128485820delinsTGTA , CM000665.2:g.128485817_128485820delinsTGTA GRCh38
NC_000003.11:g.128204660_128204663delinsTGTA , CM000665.1:g.128204660_128204663delinsTGTA GRCh37
NC_000003.10:g.129687350_129687353delinsTGTA NCBI36
NG_029334.1:g.12368_12371delinsTACA , LRG_295:g.12368_12371delinsTACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.778_781delinsTACA MANE Plus Clinical ENSP00000417074.1:p.Tyr260=
ENST00000696466.1:c.1060_1063delinsTACA ENSP00000512647.1:p.Tyr354=
ENST00000341105.7:c.778_781delinsTACA MANE Select ENSP00000345681.2:p.Tyr260=
ENST00000341105.6:c.778_781delinsTACA ENSP00000345681.2:p.Tyr260=
ENST00000430265.6:c.778_781delinsTACA ENSP00000400259.2:p.Tyr260=
ENST00000487848.5:c.778_781delinsTACA ENSP00000417074.1:p.Tyr260=
NM_001145661.1:c.778_781delinsTACA , LRG_295t1:c.778_781delinsTACA NP_001139133.1:p.Tyr260=
NM_001145662.1:c.778_781delinsTACA NP_001139134.1:p.Tyr260=
NM_032638.4:c.778_781delinsTACA , LRG_295t2:c.778_781delinsTACA NP_116027.2:p.Tyr260=
NM_001145661.2:c.778_781delinsTACA MANE Plus Clinical NP_001139133.1:p.Tyr260=
NM_032638.5:c.778_781delinsTACA MANE Select NP_116027.2:p.Tyr260=