Canonical Allele Identifier: CA1400713572
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128480947G= , CM000665.2:g.128480947G= GRCh38
NC_000003.11:g.128199790G= , CM000665.1:g.128199790G= GRCh37
NC_000003.10:g.129682480G= NCBI36
NG_029334.1:g.17241C= , LRG_295:g.17241C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.*72C= MANE Plus Clinical ENSP00000417074.1:n.*72C=
ENST00000696466.1:c.*72C= ENSP00000512647.1:n.*72C=
ENST00000696672.1:c.490C= ENSP00000512796.1:p.Pro164=
ENST00000341105.7:c.*72C= MANE Select ENSP00000345681.2:n.*72C=
ENST00000341105.6:c.*72C= ENSP00000345681.2:n.*72C=
ENST00000430265.6:c.*72C= ENSP00000400259.2:n.*72C=
ENST00000489987.1:n.632C=
NM_001145661.1:c.*72C= , LRG_295t1:c.*72C= NP_001139133.1:n.*72C=
NM_001145662.1:c.*72C= NP_001139134.1:n.*72C=
NM_032638.4:c.*72C= , LRG_295t2:c.*72C= NP_116027.2:n.*72C=
NM_001145661.2:c.*72C= MANE Plus Clinical NP_001139133.1:n.*72C=
NM_032638.5:c.*72C= MANE Select NP_116027.2:n.*72C=