Canonical Allele Identifier: CA2580068695

Gene: GATA2

Linked Data

• ClinVar Variation Id: 2002570
• ClinVar RCV Id: RCV002833007

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481215_128481216delinsAA , CM000665.2:g.128481215_128481216delinsAA	GRCh38
NC_000003.11:g.128200058_128200059delinsAA , CM000665.1:g.128200058_128200059delinsAA	GRCh37
NC_000003.10:g.129682748_129682749delinsAA	NCBI36
NG_029334.1:g.16972_16973delinsTT , LRG_295:g.16972_16973delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1246_1247delinsTT MANE Plus Clinical	ENSP00000417074.1:p.Glu416Leu
ENST00000696466.1:c.1528_1529delinsTT	ENSP00000512647.1:p.Glu510Leu
ENST00000696672.1:c.221_222delinsTT	ENSP00000512796.1:p.Gly74Val
ENST00000341105.7:c.1246_1247delinsTT MANE Select	ENSP00000345681.2:p.Glu416Leu
ENST00000341105.6:c.1246_1247delinsTT	ENSP00000345681.2:p.Glu416Leu
ENST00000430265.6:c.1204_1205delinsTT	ENSP00000400259.2:p.Glu402Leu
ENST00000487848.5:c.1246_1247delinsTT	ENSP00000417074.1:p.Glu416Leu
ENST00000489987.1:n.363_364delinsTT
NM_001145661.1:c.1246_1247delinsTT , LRG_295t1:c.1246_1247delinsTT	NP_001139133.1:p.Glu416Leu
NM_001145662.1:c.1204_1205delinsTT	NP_001139134.1:p.Glu402Leu
NM_032638.4:c.1246_1247delinsTT , LRG_295t2:c.1246_1247delinsTT	NP_116027.2:p.Glu416Leu
NM_001145661.2:c.1246_1247delinsTT MANE Plus Clinical	NP_001139133.1:p.Glu416Leu
NM_032638.5:c.1246_1247delinsTT MANE Select	NP_116027.2:p.Glu416Leu