Canonical Allele Identifier: CA2695202397
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481293_128481304del , CM000665.2:g.128481293_128481304del GRCh38
NC_000003.11:g.128200136_128200147del , CM000665.1:g.128200136_128200147del GRCh37
NC_000003.10:g.129682826_129682837del NCBI36
NG_029334.1:g.16885_16896del , LRG_295:g.16885_16896del

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1159_1170del MANE Plus Clinical ENSP00000417074.1:p.Thr387_Lys390del
ENST00000696466.1:c.1441_1452del ENSP00000512647.1:p.Thr481_Lys484del
ENST00000696672.1:c.134_145del ENSP00000512796.1:p.Asp45_Glu48del
ENST00000341105.7:c.1159_1170del MANE Select ENSP00000345681.2:p.Thr387_Lys390del
ENST00000341105.6:c.1159_1170del ENSP00000345681.2:p.Thr387_Lys390del
ENST00000430265.6:c.1117_1128del ENSP00000400259.2:p.Thr373_Lys376del
ENST00000487848.5:c.1159_1170del ENSP00000417074.1:p.Thr387_Lys390del
ENST00000489987.1:n.276_287del
NM_001145661.1:c.1159_1170del , LRG_295t1:c.1159_1170del NP_001139133.1:p.Thr387_Lys390del
NM_001145662.1:c.1117_1128del NP_001139134.1:p.Thr373_Lys376del
NM_032638.4:c.1159_1170del , LRG_295t2:c.1159_1170del NP_116027.2:p.Thr387_Lys390del
NM_001145661.2:c.1159_1170del MANE Plus Clinical NP_001139133.1:p.Thr387_Lys390del
NM_032638.5:c.1159_1170del MANE Select NP_116027.2:p.Thr387_Lys390del