Canonical Allele Identifier: CA1400715544
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128482026_128482028delinsTCC , CM000665.2:g.128482026_128482028delinsTCC GRCh38
NC_000003.11:g.128200869_128200871delinsTCC , CM000665.1:g.128200869_128200871delinsTCC GRCh37
NC_000003.10:g.129683559_129683561delinsTCC NCBI36
NG_029334.1:g.16160_16162delinsGGA , LRG_295:g.16160_16162delinsGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1018-84_1018-82delinsGGA MANE Plus Clinical ENSP00000417074.1:n.1018-84_1018-82delinsGGA
ENST00000696466.1:c.1300-84_1300-82delinsGGA ENSP00000512647.1:n.1300-84_1300-82delinsGGA
ENST00000341105.7:c.1018-84_1018-82delinsGGA MANE Select ENSP00000345681.2:n.1018-84_1018-82delinsGGA
ENST00000341105.6:c.1018-84_1018-82delinsGGA ENSP00000345681.2:n.1018-84_1018-82delinsGGA
ENST00000430265.6:c.1018-126_1018-124delinsGGA ENSP00000400259.2:n.1018-126_1018-124delinsGGA
ENST00000487848.5:c.1018-84_1018-82delinsGGA ENSP00000417074.1:n.1018-84_1018-82delinsGGA
ENST00000489987.1:n.51_53delinsGGA
NM_001145661.1:c.1018-84_1018-82delinsGGA , LRG_295t1:c.1018-84_1018-82delinsGGA NP_001139133.1:n.1018-84_1018-82delinsGGA
NM_001145662.1:c.1018-126_1018-124delinsGGA NP_001139134.1:n.1018-126_1018-124delinsGGA
NM_032638.4:c.1018-84_1018-82delinsGGA , LRG_295t2:c.1018-84_1018-82delinsGGA NP_116027.2:n.1018-84_1018-82delinsGGA
NM_001145661.2:c.1018-84_1018-82delinsGGA MANE Plus Clinical NP_001139133.1:n.1018-84_1018-82delinsGGA
NM_032638.5:c.1018-84_1018-82delinsGGA MANE Select NP_116027.2:n.1018-84_1018-82delinsGGA