Canonical Allele Identifier: CA1400713762
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481056T= , CM000665.2:g.128481056T= GRCh38
NC_000003.11:g.128199899T= , CM000665.1:g.128199899T= GRCh37
NC_000003.10:g.129682589T= NCBI36
NG_029334.1:g.17132A= , LRG_295:g.17132A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1406A= MANE Plus Clinical ENSP00000417074.1:p.His469=
ENST00000696466.1:c.1688A= ENSP00000512647.1:p.His563=
ENST00000696672.1:c.381A= ENSP00000512796.1:p.Pro127=
ENST00000341105.7:c.1406A= MANE Select ENSP00000345681.2:p.His469=
ENST00000341105.6:c.1406A= ENSP00000345681.2:p.His469=
ENST00000430265.6:c.1364A= ENSP00000400259.2:p.His455=
ENST00000487848.5:c.1406A= ENSP00000417074.1:p.His469=
ENST00000489987.1:n.523A=
NM_001145661.1:c.1406A= , LRG_295t1:c.1406A= NP_001139133.1:p.His469=
NM_001145662.1:c.1364A= NP_001139134.1:p.His455=
NM_032638.4:c.1406A= , LRG_295t2:c.1406A= NP_116027.2:p.His469=
NM_001145661.2:c.1406A= MANE Plus Clinical NP_001139133.1:p.His469=
NM_032638.5:c.1406A= MANE Select NP_116027.2:p.His469=