Canonical Allele Identifier: CA2577890699
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481962_128481968del , CM000665.2:g.128481962_128481968del GRCh38
NC_000003.11:g.128200805_128200811del , CM000665.1:g.128200805_128200811del GRCh37
NC_000003.10:g.129683495_129683501del NCBI36
NG_029334.1:g.16220_16226del , LRG_295:g.16220_16226del

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1018-24_1018-18del MANE Plus Clinical ENSP00000417074.1:n.1018-24_1018-18del
ENST00000696466.1:c.1300-24_1300-18del ENSP00000512647.1:n.1300-24_1300-18del
ENST00000341105.7:c.1018-24_1018-18del MANE Select ENSP00000345681.2:n.1018-24_1018-18del
ENST00000341105.6:c.1018-24_1018-18del ENSP00000345681.2:n.1018-24_1018-18del
ENST00000430265.6:c.1018-66_1018-60del ENSP00000400259.2:n.1018-66_1018-60del
ENST00000487848.5:c.1018-24_1018-18del ENSP00000417074.1:n.1018-24_1018-18del
ENST00000489987.1:n.111_117del
NM_001145661.1:c.1018-24_1018-18del , LRG_295t1:c.1018-24_1018-18del NP_001139133.1:n.1018-24_1018-18del
NM_001145662.1:c.1018-66_1018-60del NP_001139134.1:n.1018-66_1018-60del
NM_032638.4:c.1018-24_1018-18del , LRG_295t2:c.1018-24_1018-18del NP_116027.2:n.1018-24_1018-18del
NM_001145661.2:c.1018-24_1018-18del MANE Plus Clinical NP_001139133.1:n.1018-24_1018-18del
NM_032638.5:c.1018-24_1018-18del MANE Select NP_116027.2:n.1018-24_1018-18del