Canonical Allele Identifier: CA2667539879
Gene: GATA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128480644_128480648del , CM000665.2:g.128480644_128480648del GRCh38
NC_000003.11:g.128199487_128199491del , CM000665.1:g.128199487_128199491del GRCh37
NC_000003.10:g.129682177_129682181del NCBI36
NG_029334.1:g.17540_17544del , LRG_295:g.17540_17544del

Transcript Alleles

HGVS Amino-acid change
ENST00000487848.6:c.*371_*375del MANE Plus Clinical ENSP00000417074.1:n.*371_*375del
ENST00000696466.1:c.*371_*375del ENSP00000512647.1:n.*371_*375del
ENST00000696672.1:c.789_793del ENSP00000512796.1:n.789_793del
ENST00000341105.7:c.*371_*375del MANE Select ENSP00000345681.2:n.*371_*375del
ENST00000341105.6:c.*371_*375del ENSP00000345681.2:n.*371_*375del
ENST00000430265.6:c.*371_*375del ENSP00000400259.2:n.*371_*375del
ENST00000489987.1:n.931_935del
NM_001145661.1:c.*371_*375del , LRG_295t1:c.*371_*375del NP_001139133.1:n.*371_*375del
NM_001145662.1:c.*371_*375del NP_001139134.1:n.*371_*375del
NM_032638.4:c.*371_*375del , LRG_295t2:c.*371_*375del NP_116027.2:n.*371_*375del
NM_001145661.2:c.*371_*375del MANE Plus Clinical NP_001139133.1:n.*371_*375del
NM_032638.5:c.*371_*375del MANE Select NP_116027.2:n.*371_*375del