Canonical Allele Identifier: CA1400715700
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128482185_128482186delinsAG , CM000665.2:g.128482185_128482186delinsAG GRCh38
NC_000003.11:g.128201028_128201029delinsAG , CM000665.1:g.128201028_128201029delinsAG GRCh37
NC_000003.10:g.129683718_129683719delinsAG NCBI36
NG_029334.1:g.16002_16003delinsCT , LRG_295:g.16002_16003delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000487848.6:c.1018-242_1018-241delinsCT MANE Plus Clinical ENSP00000417074.1:n.1018-242_1018-241deli...
ENST00000696466.1:c.1300-242_1300-241delinsCT ENSP00000512647.1:n.1300-242_1300-241deli...
ENST00000341105.7:c.1018-242_1018-241delinsCT MANE Select ENSP00000345681.2:n.1018-242_1018-241deli...
ENST00000341105.6:c.1018-242_1018-241delinsCT ENSP00000345681.2:n.1018-242_1018-241deli...
ENST00000430265.6:c.1018-284_1018-283delinsCT ENSP00000400259.2:n.1018-284_1018-283deli...
ENST00000487848.5:c.1018-242_1018-241delinsCT ENSP00000417074.1:n.1018-242_1018-241deli...
NM_001145661.1:c.1018-242_1018-241delinsCT , LRG_295t1:c.1018-242_1018-241delinsCT NP_001139133.1:n.1018-242_1018-241delinsC...
NM_001145662.1:c.1018-284_1018-283delinsCT NP_001139134.1:n.1018-284_1018-283delinsC...
NM_032638.4:c.1018-242_1018-241delinsCT , LRG_295t2:c.1018-242_1018-241delinsCT NP_116027.2:n.1018-242_1018-241delinsCT
NM_001145661.2:c.1018-242_1018-241delinsCT MANE Plus Clinical NP_001139133.1:n.1018-242_1018-241delinsC...
NM_032638.5:c.1018-242_1018-241delinsCT MANE Select NP_116027.2:n.1018-242_1018-241delinsCT