Canonical Allele Identifier: CA2758339352
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128479961del , CM000665.2:g.128479961del GRCh38
NC_000003.11:g.128198804del , CM000665.1:g.128198804del GRCh37
NC_000003.10:g.129681494del NCBI36
NG_029334.1:g.18229del , LRG_295:g.18229del

Transcript Alleles

HGVS Amino-acid change
ENST00000487848.6:c.*1060del MANE Plus Clinical ENSP00000417074.1:n.*1060del
ENST00000696466.1:c.*1060del ENSP00000512647.1:n.*1060del
ENST00000696672.1:c.1478del ENSP00000512796.1:n.1478del
ENST00000341105.7:c.*1060del MANE Select ENSP00000345681.2:n.*1060del
ENST00000341105.6:c.*1060del ENSP00000345681.2:n.*1060del
NM_001145661.1:c.*1060del , LRG_295t1:c.*1060del NP_001139133.1:n.*1060del
NM_001145662.1:c.*1060del NP_001139134.1:n.*1060del
NM_032638.4:c.*1060del , LRG_295t2:c.*1060del NP_116027.2:n.*1060del
NM_001145661.2:c.*1060del MANE Plus Clinical NP_001139133.1:n.*1060del
NM_032638.5:c.*1060del MANE Select NP_116027.2:n.*1060del