Canonical Allele Identifier: CA1400713625
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128480996G= , CM000665.2:g.128480996G= GRCh38
NC_000003.11:g.128199839G= , CM000665.1:g.128199839G= GRCh37
NC_000003.10:g.129682529G= NCBI36
NG_029334.1:g.17192C= , LRG_295:g.17192C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.*23C= MANE Plus Clinical ENSP00000417074.1:n.*23C=
ENST00000696466.1:c.*23C= ENSP00000512647.1:n.*23C=
ENST00000696672.1:c.441C= ENSP00000512796.1:p.Thr147=
ENST00000341105.7:c.*23C= MANE Select ENSP00000345681.2:n.*23C=
ENST00000341105.6:c.*23C= ENSP00000345681.2:n.*23C=
ENST00000430265.6:c.*23C= ENSP00000400259.2:n.*23C=
ENST00000489987.1:n.583C=
NM_001145661.1:c.*23C= , LRG_295t1:c.*23C= NP_001139133.1:n.*23C=
NM_001145662.1:c.*23C= NP_001139134.1:n.*23C=
NM_032638.4:c.*23C= , LRG_295t2:c.*23C= NP_116027.2:n.*23C=
NM_001145661.2:c.*23C= MANE Plus Clinical NP_001139133.1:n.*23C=
NM_032638.5:c.*23C= MANE Select NP_116027.2:n.*23C=