Canonical Allele Identifier: CA1400715920
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128482442_128482443delinsTC , CM000665.2:g.128482442_128482443delinsTC GRCh38
NC_000003.11:g.128201285_128201286delinsTC , CM000665.1:g.128201285_128201286delinsTC GRCh37
NC_000003.10:g.129683975_129683976delinsTC NCBI36
NG_029334.1:g.15745_15746delinsGA , LRG_295:g.15745_15746delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1018-499_1018-498delinsGA MANE Plus Clinical ENSP00000417074.1:n.1018-499_1018-498delinsGA
ENST00000696466.1:c.1300-499_1300-498delinsGA ENSP00000512647.1:n.1300-499_1300-498delinsGA
ENST00000341105.7:c.1018-499_1018-498delinsGA MANE Select ENSP00000345681.2:n.1018-499_1018-498delinsGA
ENST00000341105.6:c.1018-499_1018-498delinsGA ENSP00000345681.2:n.1018-499_1018-498delinsGA
ENST00000430265.6:c.1018-541_1018-540delinsGA ENSP00000400259.2:n.1018-541_1018-540delinsGA
ENST00000487848.5:c.1018-499_1018-498delinsGA ENSP00000417074.1:n.1018-499_1018-498delinsGA
NM_001145661.1:c.1018-499_1018-498delinsGA , LRG_295t1:c.1018-499_1018-498delinsGA NP_001139133.1:n.1018-499_1018-498delinsGA
NM_001145662.1:c.1018-541_1018-540delinsGA NP_001139134.1:n.1018-541_1018-540delinsGA
NM_032638.4:c.1018-499_1018-498delinsGA , LRG_295t2:c.1018-499_1018-498delinsGA NP_116027.2:n.1018-499_1018-498delinsGA
NM_001145661.2:c.1018-499_1018-498delinsGA MANE Plus Clinical NP_001139133.1:n.1018-499_1018-498delinsGA
NM_032638.5:c.1018-499_1018-498delinsGA MANE Select NP_116027.2:n.1018-499_1018-498delinsGA