Canonical Allele Identifier: CA2667540265
Gene: GATA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481055del , CM000665.2:g.128481055del GRCh38
NC_000003.11:g.128199898del , CM000665.1:g.128199898del GRCh37
NC_000003.10:g.129682588del NCBI36
NG_029334.1:g.17137del , LRG_295:g.17137del

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1411del MANE Plus Clinical ENSP00000417074.1:p.His471ThrfsTer6
ENST00000696466.1:c.1693del ENSP00000512647.1:p.His565ThrfsTer6
ENST00000696672.1:c.386del ENSP00000512796.1:p.Pro129HisfsTer11
ENST00000341105.7:c.1411del MANE Select ENSP00000345681.2:p.His471ThrfsTer6
ENST00000341105.6:c.1411del ENSP00000345681.2:p.His471ThrfsTer6
ENST00000430265.6:c.1369del ENSP00000400259.2:p.His457ThrfsTer6
ENST00000487848.5:c.1411del ENSP00000417074.1:p.His471ThrfsTer6
ENST00000489987.1:n.528del
NM_001145661.1:c.1411del , LRG_295t1:c.1411del NP_001139133.1:p.His471ThrfsTer6
NM_001145662.1:c.1369del NP_001139134.1:p.His457ThrfsTer6
NM_032638.4:c.1411del , LRG_295t2:c.1411del NP_116027.2:p.His471ThrfsTer6
NM_001145661.2:c.1411del MANE Plus Clinical NP_001139133.1:p.His471ThrfsTer6
NM_032638.5:c.1411del MANE Select NP_116027.2:p.His471ThrfsTer6