Canonical Allele Identifier: CA1400719503
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128486298_128486299delinsCC , CM000665.2:g.128486298_128486299delinsCC GRCh38
NC_000003.11:g.128205141_128205142delinsCC , CM000665.1:g.128205141_128205142delinsCC GRCh37
NC_000003.10:g.129687831_129687832delinsCC NCBI36
NG_029334.1:g.11889_11890delinsGG , LRG_295:g.11889_11890delinsGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.299_300delinsGG MANE Plus Clinical ENSP00000417074.1:p.Gly100=
ENST00000696466.1:c.581_582delinsGG ENSP00000512647.1:p.Gly194=
ENST00000341105.7:c.299_300delinsGG MANE Select ENSP00000345681.2:p.Gly100=
ENST00000341105.6:c.299_300delinsGG ENSP00000345681.2:p.Gly100=
ENST00000430265.6:c.299_300delinsGG ENSP00000400259.2:p.Gly100=
ENST00000487848.5:c.299_300delinsGG ENSP00000417074.1:p.Gly100=
ENST00000492608.1:c.299_300delinsGG ENSP00000418132.1:p.Gly100=
NM_001145661.1:c.299_300delinsGG , LRG_295t1:c.299_300delinsGG NP_001139133.1:p.Gly100=
NM_001145662.1:c.299_300delinsGG NP_001139134.1:p.Gly100=
NM_032638.4:c.299_300delinsGG , LRG_295t2:c.299_300delinsGG NP_116027.2:p.Gly100=
NM_001145661.2:c.299_300delinsGG MANE Plus Clinical NP_001139133.1:p.Gly100=
NM_032638.5:c.299_300delinsGG MANE Select NP_116027.2:p.Gly100=