Canonical Allele Identifier: CA1400717518
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128483957C= , CM000665.2:g.128483957C= GRCh38
NC_000003.11:g.128202800C= , CM000665.1:g.128202800C= GRCh37
NC_000003.10:g.129685490C= NCBI36
NG_029334.1:g.14231G= , LRG_295:g.14231G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.920G= MANE Plus Clinical ENSP00000417074.1:p.Arg307=
ENST00000696466.1:c.1202G= ENSP00000512647.1:p.Arg401=
ENST00000341105.7:c.920G= MANE Select ENSP00000345681.2:p.Arg307=
ENST00000341105.6:c.920G= ENSP00000345681.2:p.Arg307=
ENST00000430265.6:c.920G= ENSP00000400259.2:p.Arg307=
ENST00000487848.5:c.920G= ENSP00000417074.1:p.Arg307=
NM_001145661.1:c.920G= , LRG_295t1:c.920G= NP_001139133.1:p.Arg307=
NM_001145662.1:c.920G= NP_001139134.1:p.Arg307=
NM_032638.4:c.920G= , LRG_295t2:c.920G= NP_116027.2:p.Arg307=
NM_001145661.2:c.920G= MANE Plus Clinical NP_001139133.1:p.Arg307=
NM_032638.5:c.920G= MANE Select NP_116027.2:p.Arg307=