Canonical Allele Identifier: CA1400715487
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481994_128481995delinsAC , CM000665.2:g.128481994_128481995delinsAC GRCh38
NC_000003.11:g.128200837_128200838delinsAC , CM000665.1:g.128200837_128200838delinsAC GRCh37
NC_000003.10:g.129683527_129683528delinsAC NCBI36
NG_029334.1:g.16193_16194delinsGT , LRG_295:g.16193_16194delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1018-51_1018-50delinsGT MANE Plus Clinical ENSP00000417074.1:n.1018-51_1018-50delinsGT
ENST00000696466.1:c.1300-51_1300-50delinsGT ENSP00000512647.1:n.1300-51_1300-50delinsGT
ENST00000341105.7:c.1018-51_1018-50delinsGT MANE Select ENSP00000345681.2:n.1018-51_1018-50delinsGT
ENST00000341105.6:c.1018-51_1018-50delinsGT ENSP00000345681.2:n.1018-51_1018-50delinsGT
ENST00000430265.6:c.1018-93_1018-92delinsGT ENSP00000400259.2:n.1018-93_1018-92delinsGT
ENST00000487848.5:c.1018-51_1018-50delinsGT ENSP00000417074.1:n.1018-51_1018-50delinsGT
ENST00000489987.1:n.84_85delinsGT
NM_001145661.1:c.1018-51_1018-50delinsGT , LRG_295t1:c.1018-51_1018-50delinsGT NP_001139133.1:n.1018-51_1018-50delinsGT
NM_001145662.1:c.1018-93_1018-92delinsGT NP_001139134.1:n.1018-93_1018-92delinsGT
NM_032638.4:c.1018-51_1018-50delinsGT , LRG_295t2:c.1018-51_1018-50delinsGT NP_116027.2:n.1018-51_1018-50delinsGT
NM_001145661.2:c.1018-51_1018-50delinsGT MANE Plus Clinical NP_001139133.1:n.1018-51_1018-50delinsGT
NM_032638.5:c.1018-51_1018-50delinsGT MANE Select NP_116027.2:n.1018-51_1018-50delinsGT