Canonical Allele Identifier: CA1400719325
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128485998_128485999delinsAC , CM000665.2:g.128485998_128485999delinsAC GRCh38
NC_000003.11:g.128204841_128204842delinsAC , CM000665.1:g.128204841_128204842delinsAC GRCh37
NC_000003.10:g.129687531_129687532delinsAC NCBI36
NG_029334.1:g.12189_12190delinsGT , LRG_295:g.12189_12190delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.599_600delinsGT MANE Plus Clinical ENSP00000417074.1:p.Gly200=
ENST00000696466.1:c.881_882delinsGT ENSP00000512647.1:p.Gly294=
ENST00000341105.7:c.599_600delinsGT MANE Select ENSP00000345681.2:p.Gly200=
ENST00000341105.6:c.599_600delinsGT ENSP00000345681.2:p.Gly200=
ENST00000430265.6:c.599_600delinsGT ENSP00000400259.2:p.Gly200=
ENST00000487848.5:c.599_600delinsGT ENSP00000417074.1:p.Gly200=
NM_001145661.1:c.599_600delinsGT , LRG_295t1:c.599_600delinsGT NP_001139133.1:p.Gly200=
NM_001145662.1:c.599_600delinsGT NP_001139134.1:p.Gly200=
NM_032638.4:c.599_600delinsGT , LRG_295t2:c.599_600delinsGT NP_116027.2:p.Gly200=
NM_001145661.2:c.599_600delinsGT MANE Plus Clinical NP_001139133.1:p.Gly200=
NM_032638.5:c.599_600delinsGT MANE Select NP_116027.2:p.Gly200=