Canonical Allele Identifier: CA435524882

Gene: GATA2

Linked Data

• COSMIC: COSM1418767
• MyVariant Identifiers: chr3:g.128200024del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481185del , CM000665.2:g.128481185del	GRCh38
NC_000003.11:g.128200028del , CM000665.1:g.128200028del	GRCh37
NC_000003.10:g.129682718del	NCBI36
NG_029334.1:g.17007del , LRG_295:g.17007del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1281del MANE Plus Clinical	ENSP00000417074.1:p.Phe428SerfsTer?
ENST00000696466.1:c.1563del	ENSP00000512647.1:p.Phe522SerfsTer?
ENST00000696672.1:c.256del	ENSP00000512796.1:p.Leu86PhefsTer?
ENST00000341105.7:c.1281del MANE Select	ENSP00000345681.2:p.Phe428SerfsTer?
ENST00000341105.6:c.1281del	ENSP00000345681.2:p.Phe428SerfsTer?
ENST00000430265.6:c.1239del	ENSP00000400259.2:p.Phe414SerfsTer?
ENST00000487848.5:c.1281del	ENSP00000417074.1:p.Phe428SerfsTer?
ENST00000489987.1:n.398del
NM_001145661.1:c.1281del , LRG_295t1:c.1281del	NP_001139133.1:p.Phe428SerfsTer?
NM_001145662.1:c.1239del	NP_001139134.1:p.Phe414SerfsTer?
NM_032638.4:c.1281del , LRG_295t2:c.1281del	NP_116027.2:p.Phe428SerfsTer?
NM_001145661.2:c.1281del MANE Plus Clinical	NP_001139133.1:p.Phe428SerfsTer?
NM_032638.5:c.1281del MANE Select	NP_116027.2:p.Phe428SerfsTer?