Canonical Allele Identifier: CA435525570
Gene: GATA2 HGNC NCBI

Linked Data

COSMIC: COSM255087
MyVariant Identifiers: chr3:g.128200720del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481877del , CM000665.2:g.128481877del GRCh38
NC_000003.11:g.128200720del , CM000665.1:g.128200720del GRCh37
NC_000003.10:g.129683410del NCBI36
NG_029334.1:g.16311del , LRG_295:g.16311del

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1085del MANE Plus Clinical ENSP00000417074.1:p.Arg362GlnfsTer25
ENST00000696466.1:c.1367del ENSP00000512647.1:p.Arg456GlnfsTer25
ENST00000696672.1:c.68del ENSP00000512796.1:p.Arg23GlnfsTer?
ENST00000341105.7:c.1085del MANE Select ENSP00000345681.2:p.Arg362GlnfsTer25
ENST00000341105.6:c.1085del ENSP00000345681.2:p.Arg362GlnfsTer25
ENST00000430265.6:c.1043del ENSP00000400259.2:p.Arg348GlnfsTer25
ENST00000487848.5:c.1085del ENSP00000417074.1:p.Arg362GlnfsTer25
ENST00000489987.1:n.202del
NM_001145661.1:c.1085del , LRG_295t1:c.1085del NP_001139133.1:p.Arg362GlnfsTer25
NM_001145662.1:c.1043del NP_001139134.1:p.Arg348GlnfsTer25
NM_032638.4:c.1085del , LRG_295t2:c.1085del NP_116027.2:p.Arg362GlnfsTer25
NM_001145661.2:c.1085del MANE Plus Clinical NP_001139133.1:p.Arg362GlnfsTer25
NM_032638.5:c.1085del MANE Select NP_116027.2:p.Arg362GlnfsTer25