Canonical Allele Identifier: CA2586972848
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128486352_128486354del , CM000665.2:g.128486352_128486354del GRCh38
NC_000003.11:g.128205195_128205197del , CM000665.1:g.128205195_128205197del GRCh37
NC_000003.10:g.129687885_129687887del NCBI36
NG_029334.1:g.11834_11836del , LRG_295:g.11834_11836del

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.244_246del MANE Plus Clinical ENSP00000417074.1:p.Gly82del
ENST00000696466.1:c.526_528del ENSP00000512647.1:p.Gly176del
ENST00000341105.7:c.244_246del MANE Select ENSP00000345681.2:p.Gly82del
ENST00000341105.6:c.244_246del ENSP00000345681.2:p.Gly82del
ENST00000430265.6:c.244_246del ENSP00000400259.2:p.Gly82del
ENST00000487848.5:c.244_246del ENSP00000417074.1:p.Gly82del
ENST00000492608.1:c.244_246del ENSP00000418132.1:p.Gly82del
NM_001145661.1:c.244_246del , LRG_295t1:c.244_246del NP_001139133.1:p.Gly82del
NM_001145662.1:c.244_246del NP_001139134.1:p.Gly82del
NM_032638.4:c.244_246del , LRG_295t2:c.244_246del NP_116027.2:p.Gly82del
NM_001145661.2:c.244_246del MANE Plus Clinical NP_001139133.1:p.Gly82del
NM_032638.5:c.244_246del MANE Select NP_116027.2:p.Gly82del