Canonical Allele Identifier: CA1139532297

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481887_128481889delinsCGT , CM000665.2:g.128481887_128481889delinsCGT	GRCh38
NC_000003.11:g.128200730_128200732delinsCGT , CM000665.1:g.128200730_128200732delinsCGT	GRCh37
NC_000003.10:g.129683420_129683422delinsCGT	NCBI36
NG_029334.1:g.16299_16301delinsACG , LRG_295:g.16299_16301delinsACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1073_1075delinsACG MANE Plus Clinical	ENSP00000417074.1:p.Thr358_Leu359delinsAsnVal
ENST00000696466.1:c.1355_1357delinsACG	ENSP00000512647.1:p.Thr452_Leu453delinsAsnVal
ENST00000696672.1:c.56_58delinsACG	ENSP00000512796.1:p.Thr19_Leu20delinsAsnVal
ENST00000341105.7:c.1073_1075delinsACG MANE Select	ENSP00000345681.2:p.Thr358_Leu359delinsAsnVal
ENST00000341105.6:c.1073_1075delinsACG	ENSP00000345681.2:p.Thr358_Leu359delinsAsnVal
ENST00000430265.6:c.1031_1033delinsACG	ENSP00000400259.2:p.Thr344_Leu345delinsAsnVal
ENST00000487848.5:c.1073_1075delinsACG	ENSP00000417074.1:p.Thr358_Leu359delinsAsnVal
ENST00000489987.1:n.190_192delinsACG
NM_001145661.1:c.1073_1075delinsACG , LRG_295t1:c.1073_1075delinsACG	NP_001139133.1:p.Thr358_Leu359delinsAsnVal
NM_001145662.1:c.1031_1033delinsACG	NP_001139134.1:p.Thr344_Leu345delinsAsnVal
NM_032638.4:c.1073_1075delinsACG , LRG_295t2:c.1073_1075delinsACG	NP_116027.2:p.Thr358_Leu359delinsAsnVal
NM_001145661.2:c.1073_1075delinsACG MANE Plus Clinical	NP_001139133.1:p.Thr358_Leu359delinsAsnVal
NM_032638.5:c.1073_1075delinsACG MANE Select	NP_116027.2:p.Thr358_Leu359delinsAsnVal