Canonical Allele Identifier: CA2758339660
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481668_128481669insGAGA , CM000665.2:g.128481668_128481669insGAGA GRCh38
NC_000003.11:g.128200511_128200512insGAGA , CM000665.1:g.128200511_128200512insGAGA GRCh37
NC_000003.10:g.129683201_129683202insGAGA NCBI36
NG_029334.1:g.16519_16520insTCTC , LRG_295:g.16519_16520insTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1143+150_1143+151insTCTC MANE Plus Clinical ENSP00000417074.1:n.1143+150_1143+151insTCTC
ENST00000696466.1:c.1425+150_1425+151insTCTC ENSP00000512647.1:n.1425+150_1425+151insTCTC
ENST00000696672.1:c.126+150_126+151insTCTC ENSP00000512796.1:n.126+150_126+151insTCTC
ENST00000341105.7:c.1143+150_1143+151insTCTC MANE Select ENSP00000345681.2:n.1143+150_1143+151insTCTC
ENST00000341105.6:c.1143+150_1143+151insTCTC ENSP00000345681.2:n.1143+150_1143+151insTCTC
ENST00000430265.6:c.1101+150_1101+151insTCTC ENSP00000400259.2:n.1101+150_1101+151insTCTC
ENST00000487848.5:c.1143+150_1143+151insTCTC ENSP00000417074.1:n.1143+150_1143+151insTCTC
ENST00000489987.1:n.260+150_260+151insTCTC
NM_001145661.1:c.1143+150_1143+151insTCTC , LRG_295t1:c.1143+150_1143+151insTCTC NP_001139133.1:n.1143+150_1143+151insTCTC
NM_001145662.1:c.1101+150_1101+151insTCTC NP_001139134.1:n.1101+150_1101+151insTCTC
NM_032638.4:c.1143+150_1143+151insTCTC , LRG_295t2:c.1143+150_1143+151insTCTC NP_116027.2:n.1143+150_1143+151insTCTC
NM_001145661.2:c.1143+150_1143+151insTCTC MANE Plus Clinical NP_001139133.1:n.1143+150_1143+151insTCTC
NM_032638.5:c.1143+150_1143+151insTCTC MANE Select NP_116027.2:n.1143+150_1143+151insTCTC