Canonical Allele Identifier: CA1611067989
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128486289_128486296del , CM000665.2:g.128486289_128486296del GRCh38
NC_000003.11:g.128205132_128205139del , CM000665.1:g.128205132_128205139del GRCh37
NC_000003.10:g.129687822_129687829del NCBI36
NG_029334.1:g.11894_11901del , LRG_295:g.11894_11901del

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.304_311del MANE Plus Clinical ENSP00000417074.1:p.Lys102ProfsTer?
ENST00000696466.1:c.586_593del ENSP00000512647.1:p.Lys196ProfsTer?
ENST00000341105.7:c.304_311del MANE Select ENSP00000345681.2:p.Lys102ProfsTer?
ENST00000341105.6:c.304_311del ENSP00000345681.2:p.Lys102ProfsTer?
ENST00000430265.6:c.304_311del ENSP00000400259.2:p.Lys102ProfsTer?
ENST00000487848.5:c.304_311del ENSP00000417074.1:p.Lys102ProfsTer?
ENST00000492608.1:c.304_311del ENSP00000418132.1:p.Lys102ProfsTer?
NM_001145661.1:c.304_311del , LRG_295t1:c.304_311del NP_001139133.1:p.Lys102ProfsTer?
NM_001145662.1:c.304_311del NP_001139134.1:p.Lys102ProfsTer?
NM_032638.4:c.304_311del , LRG_295t2:c.304_311del NP_116027.2:p.Lys102ProfsTer?
NM_001145661.2:c.304_311del MANE Plus Clinical NP_001139133.1:p.Lys102ProfsTer?
NM_032638.5:c.304_311del MANE Select NP_116027.2:p.Lys102ProfsTer?