Canonical Allele Identifier: CA2695202304

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481288del , CM000665.2:g.128481288del	GRCh38
NC_000003.11:g.128200131del , CM000665.1:g.128200131del	GRCh37
NC_000003.10:g.129682821del	NCBI36
NG_029334.1:g.16902del , LRG_295:g.16902del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1176del MANE Plus Clinical	ENSP00000417074.1:p.Ile393SerfsTer?
ENST00000696466.1:c.1458del	ENSP00000512647.1:p.Ile487SerfsTer?
ENST00000696672.1:c.151del	ENSP00000512796.1:p.Asp51IlefsTer?
ENST00000341105.7:c.1176del MANE Select	ENSP00000345681.2:p.Ile393SerfsTer?
ENST00000341105.6:c.1176del	ENSP00000345681.2:p.Ile393SerfsTer?
ENST00000430265.6:c.1134del	ENSP00000400259.2:p.Ile379SerfsTer?
ENST00000487848.5:c.1176del	ENSP00000417074.1:p.Ile393SerfsTer?
ENST00000489987.1:n.293del
NM_001145661.1:c.1176del , LRG_295t1:c.1176del	NP_001139133.1:p.Ile393SerfsTer?
NM_001145662.1:c.1134del	NP_001139134.1:p.Ile379SerfsTer?
NM_032638.4:c.1176del , LRG_295t2:c.1176del	NP_116027.2:p.Ile393SerfsTer?
NM_001145661.2:c.1176del MANE Plus Clinical	NP_001139133.1:p.Ile393SerfsTer?
NM_032638.5:c.1176del MANE Select	NP_116027.2:p.Ile393SerfsTer?