Canonical Allele Identifier: CA128589

Gene: GATA2

Linked Data

• ClinVar Variation Id: 29720
• ClinVar RCV Id: RCV000022572 ; RCV001542161 ; RCV001543679
• dbSNP Id: rs387906633
• MyVariant Identifiers: chr3:g.128200688A>G (hg19) ; chr3:g.128481845A>G (hg38)
• PubMed: PMID:20803646 ; PMID:21892158

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481845A>G , CM000665.2:g.128481845A>G	GRCh38
NC_000003.11:g.128200688A>G , CM000665.1:g.128200688A>G	GRCh37
NC_000003.10:g.129683378A>G	NCBI36
NG_029334.1:g.16343T>C , LRG_295:g.16343T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1117T>C MANE Plus Clinical	ENSP00000417074.1:p.Cys373Arg
ENST00000696466.1:c.1399T>C	ENSP00000512647.1:p.Cys467Arg
ENST00000696672.1:c.100T>C	ENSP00000512796.1:p.Cys34Arg
ENST00000341105.7:c.1117T>C MANE Select	ENSP00000345681.2:p.Cys373Arg
ENST00000341105.6:c.1117T>C	ENSP00000345681.2:p.Cys373Arg
ENST00000430265.6:c.1075T>C	ENSP00000400259.2:p.Cys359Arg
ENST00000487848.5:c.1117T>C	ENSP00000417074.1:p.Cys373Arg
ENST00000489987.1:n.234T>C
NM_001145661.1:c.1117T>C , LRG_295t1:c.1117T>C	NP_001139133.1:p.Cys373Arg
NM_001145662.1:c.1075T>C	NP_001139134.1:p.Cys359Arg
NM_032638.4:c.1117T>C , LRG_295t2:c.1117T>C	NP_116027.2:p.Cys373Arg
NM_001145661.2:c.1117T>C MANE Plus Clinical	NP_001139133.1:p.Cys373Arg
NM_032638.5:c.1117T>C MANE Select	NP_116027.2:p.Cys373Arg