Canonical Allele Identifier: CA1400714130

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481192_128481195delinsTCTC , CM000665.2:g.128481192_128481195delinsTCTC	GRCh38
NC_000003.11:g.128200035_128200038delinsTCTC , CM000665.1:g.128200035_128200038delinsTCTC	GRCh37
NC_000003.10:g.129682725_129682728delinsTCTC	NCBI36
NG_029334.1:g.16993_16996delinsGAGA , LRG_295:g.16993_16996delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1267_1270delinsGAGA MANE Plus Clinical	ENSP00000417074.1:p.Glu423=
ENST00000696466.1:c.1549_1552delinsGAGA	ENSP00000512647.1:p.Glu517=
ENST00000696672.1:c.242_245delinsGAGA	ENSP00000512796.1:p.Gly81=
ENST00000341105.7:c.1267_1270delinsGAGA MANE Select	ENSP00000345681.2:p.Glu423=
ENST00000341105.6:c.1267_1270delinsGAGA	ENSP00000345681.2:p.Glu423=
ENST00000430265.6:c.1225_1228delinsGAGA	ENSP00000400259.2:p.Glu409=
ENST00000487848.5:c.1267_1270delinsGAGA	ENSP00000417074.1:p.Glu423=
ENST00000489987.1:n.384_387delinsGAGA
NM_001145661.1:c.1267_1270delinsGAGA , LRG_295t1:c.1267_1270delinsGAGA	NP_001139133.1:p.Glu423=
NM_001145662.1:c.1225_1228delinsGAGA	NP_001139134.1:p.Glu409=
NM_032638.4:c.1267_1270delinsGAGA , LRG_295t2:c.1267_1270delinsGAGA	NP_116027.2:p.Glu423=
NM_001145661.2:c.1267_1270delinsGAGA MANE Plus Clinical	NP_001139133.1:p.Glu423=
NM_032638.5:c.1267_1270delinsGAGA MANE Select	NP_116027.2:p.Glu423=