Canonical Allele Identifier: CA1400713842
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481084G= , CM000665.2:g.128481084G= GRCh38
NC_000003.11:g.128199927G= , CM000665.1:g.128199927G= GRCh37
NC_000003.10:g.129682617G= NCBI36
NG_029334.1:g.17104C= , LRG_295:g.17104C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1378C= MANE Plus Clinical ENSP00000417074.1:p.His460=
ENST00000696466.1:c.1660C= ENSP00000512647.1:p.His554=
ENST00000696672.1:c.353C= ENSP00000512796.1:p.Pro118=
ENST00000341105.7:c.1378C= MANE Select ENSP00000345681.2:p.His460=
ENST00000341105.6:c.1378C= ENSP00000345681.2:p.His460=
ENST00000430265.6:c.1336C= ENSP00000400259.2:p.His446=
ENST00000487848.5:c.1378C= ENSP00000417074.1:p.His460=
ENST00000489987.1:n.495C=
NM_001145661.1:c.1378C= , LRG_295t1:c.1378C= NP_001139133.1:p.His460=
NM_001145662.1:c.1336C= NP_001139134.1:p.His446=
NM_032638.4:c.1378C= , LRG_295t2:c.1378C= NP_116027.2:p.His460=
NM_001145661.2:c.1378C= MANE Plus Clinical NP_001139133.1:p.His460=
NM_032638.5:c.1378C= MANE Select NP_116027.2:p.His460=