Canonical Allele Identifier: CA1400714204
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481234C= , CM000665.2:g.128481234C= GRCh38
NC_000003.11:g.128200077C= , CM000665.1:g.128200077C= GRCh37
NC_000003.10:g.129682767C= NCBI36
NG_029334.1:g.16954G= , LRG_295:g.16954G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1228G= MANE Plus Clinical ENSP00000417074.1:p.Gly410=
ENST00000696466.1:c.1510G= ENSP00000512647.1:p.Gly504=
ENST00000696672.1:c.203G= ENSP00000512796.1:p.Arg68=
ENST00000341105.7:c.1228G= MANE Select ENSP00000345681.2:p.Gly410=
ENST00000341105.6:c.1228G= ENSP00000345681.2:p.Gly410=
ENST00000430265.6:c.1186G= ENSP00000400259.2:p.Gly396=
ENST00000487848.5:c.1228G= ENSP00000417074.1:p.Gly410=
ENST00000489987.1:n.345G=
NM_001145661.1:c.1228G= , LRG_295t1:c.1228G= NP_001139133.1:p.Gly410=
NM_001145662.1:c.1186G= NP_001139134.1:p.Gly396=
NM_032638.4:c.1228G= , LRG_295t2:c.1228G= NP_116027.2:p.Gly410=
NM_001145661.2:c.1228G= MANE Plus Clinical NP_001139133.1:p.Gly410=
NM_032638.5:c.1228G= MANE Select NP_116027.2:p.Gly410=