Canonical Allele Identifier: CA1400713799

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481074_128481078delinsGAGGA , CM000665.2:g.128481074_128481078delinsGAGGA	GRCh38
NC_000003.11:g.128199917_128199921delinsGAGGA , CM000665.1:g.128199917_128199921delinsGAGGA	GRCh37
NC_000003.10:g.129682607_129682611delinsGAGGA	NCBI36
NG_029334.1:g.17110_17114delinsTCCTC , LRG_295:g.17110_17114delinsTCCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1384_1388delinsTCCTC MANE Plus Clinical	ENSP00000417074.1:p.Ser462=
ENST00000696466.1:c.1666_1670delinsTCCTC	ENSP00000512647.1:p.Ser556=
ENST00000696672.1:c.359_363delinsTCCTC	ENSP00000512796.1:p.Leu120=
ENST00000341105.7:c.1384_1388delinsTCCTC MANE Select	ENSP00000345681.2:p.Ser462=
ENST00000341105.6:c.1384_1388delinsTCCTC	ENSP00000345681.2:p.Ser462=
ENST00000430265.6:c.1342_1346delinsTCCTC	ENSP00000400259.2:p.Ser448=
ENST00000487848.5:c.1384_1388delinsTCCTC	ENSP00000417074.1:p.Ser462=
ENST00000489987.1:n.501_505delinsTCCTC
NM_001145661.1:c.1384_1388delinsTCCTC , LRG_295t1:c.1384_1388delinsTCCTC	NP_001139133.1:p.Ser462=
NM_001145662.1:c.1342_1346delinsTCCTC	NP_001139134.1:p.Ser448=
NM_032638.4:c.1384_1388delinsTCCTC , LRG_295t2:c.1384_1388delinsTCCTC	NP_116027.2:p.Ser462=
NM_001145661.2:c.1384_1388delinsTCCTC MANE Plus Clinical	NP_001139133.1:p.Ser462=
NM_032638.5:c.1384_1388delinsTCCTC MANE Select	NP_116027.2:p.Ser462=