Canonical Allele Identifier: CA1400718703
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128485540_128485541delinsCA , CM000665.2:g.128485540_128485541delinsCA GRCh38
NC_000003.11:g.128204383_128204384delinsCA , CM000665.1:g.128204383_128204384delinsCA GRCh37
NC_000003.10:g.129687073_129687074delinsCA NCBI36
NG_029334.1:g.12647_12648delinsTG , LRG_295:g.12647_12648delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.871+186_871+187delinsTG MANE Plus Clinical ENSP00000417074.1:n.871+186_871+187delinsTG
ENST00000696466.1:c.1153+186_1153+187delinsTG ENSP00000512647.1:n.1153+186_1153+187delinsTG
ENST00000341105.7:c.871+186_871+187delinsTG MANE Select ENSP00000345681.2:n.871+186_871+187delinsTG
ENST00000341105.6:c.871+186_871+187delinsTG ENSP00000345681.2:n.871+186_871+187delinsTG
ENST00000430265.6:c.871+186_871+187delinsTG ENSP00000400259.2:n.871+186_871+187delinsTG
ENST00000487848.5:c.871+186_871+187delinsTG ENSP00000417074.1:n.871+186_871+187delinsTG
NM_001145661.1:c.871+186_871+187delinsTG , LRG_295t1:c.871+186_871+187delinsTG NP_001139133.1:n.871+186_871+187delinsTG
NM_001145662.1:c.871+186_871+187delinsTG NP_001139134.1:n.871+186_871+187delinsTG
NM_032638.4:c.871+186_871+187delinsTG , LRG_295t2:c.871+186_871+187delinsTG NP_116027.2:n.871+186_871+187delinsTG
NM_001145661.2:c.871+186_871+187delinsTG MANE Plus Clinical NP_001139133.1:n.871+186_871+187delinsTG
NM_032638.5:c.871+186_871+187delinsTG MANE Select NP_116027.2:n.871+186_871+187delinsTG