Canonical Allele Identifier: CA1400715759
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128482243_128482244delinsAT , CM000665.2:g.128482243_128482244delinsAT GRCh38
NC_000003.11:g.128201086_128201087delinsAT , CM000665.1:g.128201086_128201087delinsAT GRCh37
NC_000003.10:g.129683776_129683777delinsAT NCBI36
NG_029334.1:g.15944_15945delinsAT , LRG_295:g.15944_15945delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1018-300_1018-299delinsAT MANE Plus Clinical ENSP00000417074.1:n.1018-300_1018-299delinsAT
ENST00000696466.1:c.1300-300_1300-299delinsAT ENSP00000512647.1:n.1300-300_1300-299delinsAT
ENST00000341105.7:c.1018-300_1018-299delinsAT MANE Select ENSP00000345681.2:n.1018-300_1018-299delinsAT
ENST00000341105.6:c.1018-300_1018-299delinsAT ENSP00000345681.2:n.1018-300_1018-299delinsAT
ENST00000430265.6:c.1018-342_1018-341delinsAT ENSP00000400259.2:n.1018-342_1018-341delinsAT
ENST00000487848.5:c.1018-300_1018-299delinsAT ENSP00000417074.1:n.1018-300_1018-299delinsAT
NM_001145661.1:c.1018-300_1018-299delinsAT , LRG_295t1:c.1018-300_1018-299delinsAT NP_001139133.1:n.1018-300_1018-299delinsAT
NM_001145662.1:c.1018-342_1018-341delinsAT NP_001139134.1:n.1018-342_1018-341delinsAT
NM_032638.4:c.1018-300_1018-299delinsAT , LRG_295t2:c.1018-300_1018-299delinsAT NP_116027.2:n.1018-300_1018-299delinsAT
NM_001145661.2:c.1018-300_1018-299delinsAT MANE Plus Clinical NP_001139133.1:n.1018-300_1018-299delinsAT
NM_032638.5:c.1018-300_1018-299delinsAT MANE Select NP_116027.2:n.1018-300_1018-299delinsAT