Canonical Allele Identifier: CA2667539886

Gene: GATA2

Linked Data

• gnomAD v4: 3-128480653-C-CATTAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128480653_128480654insATTAAAA , CM000665.2:g.128480653_128480654insATTAAAA	GRCh38
NC_000003.11:g.128199496_128199497insATTAAAA , CM000665.1:g.128199496_128199497insATTAAAA	GRCh37
NC_000003.10:g.129682186_129682187insATTAAAA	NCBI36
NG_029334.1:g.17534_17535insTTTTAAT , LRG_295:g.17534_17535insTTTTAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.*365_*366insTTTTAAT MANE Plus Clinical	ENSP00000417074.1:n.*365_*366insTTTTAAT
ENST00000696466.1:c.*365_*366insTTTTAAT	ENSP00000512647.1:n.*365_*366insTTTTAAT
ENST00000696672.1:c.783_784insTTTTAAT	ENSP00000512796.1:n.783_784insTTTTAAT
ENST00000341105.7:c.*365_*366insTTTTAAT MANE Select	ENSP00000345681.2:n.*365_*366insTTTTAAT
ENST00000341105.6:c.*365_*366insTTTTAAT	ENSP00000345681.2:n.*365_*366insTTTTAAT
ENST00000430265.6:c.*365_*366insTTTTAAT	ENSP00000400259.2:n.*365_*366insTTTTAAT
ENST00000489987.1:n.925_926insTTTTAAT
NM_001145661.1:c.*365_*366insTTTTAAT , LRG_295t1:c.*365_*366insTTTTAAT	NP_001139133.1:n.*365_*366insTTTTAAT
NM_001145662.1:c.*365_*366insTTTTAAT	NP_001139134.1:n.*365_*366insTTTTAAT
NM_032638.4:c.*365_*366insTTTTAAT , LRG_295t2:c.*365_*366insTTTTAAT	NP_116027.2:n.*365_*366insTTTTAAT
NM_001145661.2:c.*365_*366insTTTTAAT MANE Plus Clinical	NP_001139133.1:n.*365_*366insTTTTAAT
NM_032638.5:c.*365_*366insTTTTAAT MANE Select	NP_116027.2:n.*365_*366insTTTTAAT