Canonical Allele Identifier: CA1400713757
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481055G= , CM000665.2:g.128481055G= GRCh38
NC_000003.11:g.128199898G= , CM000665.1:g.128199898G= GRCh37
NC_000003.10:g.129682588G= NCBI36
NG_029334.1:g.17133C= , LRG_295:g.17133C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1407C= MANE Plus Clinical ENSP00000417074.1:p.His469=
ENST00000696466.1:c.1689C= ENSP00000512647.1:p.His563=
ENST00000696672.1:c.382C= ENSP00000512796.1:p.Pro128=
ENST00000341105.7:c.1407C= MANE Select ENSP00000345681.2:p.His469=
ENST00000341105.6:c.1407C= ENSP00000345681.2:p.His469=
ENST00000430265.6:c.1365C= ENSP00000400259.2:p.His455=
ENST00000487848.5:c.1407C= ENSP00000417074.1:p.His469=
ENST00000489987.1:n.524C=
NM_001145661.1:c.1407C= , LRG_295t1:c.1407C= NP_001139133.1:p.His469=
NM_001145662.1:c.1365C= NP_001139134.1:p.His455=
NM_032638.4:c.1407C= , LRG_295t2:c.1407C= NP_116027.2:p.His469=
NM_001145661.2:c.1407C= MANE Plus Clinical NP_001139133.1:p.His469=
NM_032638.5:c.1407C= MANE Select NP_116027.2:p.His469=