Canonical Allele Identifier: CA1400713872
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481092G= , CM000665.2:g.128481092G= GRCh38
NC_000003.11:g.128199935G= , CM000665.1:g.128199935G= GRCh37
NC_000003.10:g.129682625G= NCBI36
NG_029334.1:g.17096C= , LRG_295:g.17096C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1370C= MANE Plus Clinical ENSP00000417074.1:p.Thr457=
ENST00000696466.1:c.1652C= ENSP00000512647.1:p.Thr551=
ENST00000696672.1:c.345C= ENSP00000512796.1:p.Asp115=
ENST00000341105.7:c.1370C= MANE Select ENSP00000345681.2:p.Thr457=
ENST00000341105.6:c.1370C= ENSP00000345681.2:p.Thr457=
ENST00000430265.6:c.1328C= ENSP00000400259.2:p.Thr443=
ENST00000487848.5:c.1370C= ENSP00000417074.1:p.Thr457=
ENST00000489987.1:n.487C=
NM_001145661.1:c.1370C= , LRG_295t1:c.1370C= NP_001139133.1:p.Thr457=
NM_001145662.1:c.1328C= NP_001139134.1:p.Thr443=
NM_032638.4:c.1370C= , LRG_295t2:c.1370C= NP_116027.2:p.Thr457=
NM_001145661.2:c.1370C= MANE Plus Clinical NP_001139133.1:p.Thr457=
NM_032638.5:c.1370C= MANE Select NP_116027.2:p.Thr457=