Canonical Allele Identifier: CA2599807

Gene: GATA2

Linked Data

• ClinVar Variation Id: 2926034
• ClinVar RCV Id: RCV003786320
• dbSNP Id: rs777283732
• ExAC: 3:128200018 A / T
• gnomAD v2: 3-128200018-A-T
• gnomAD v4: 3-128481175-A-T
• MyVariant Identifiers: chr3:g.128200018A>T (hg19) ; chr3:g.128481175A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481175A>T , CM000665.2:g.128481175A>T	GRCh38
NC_000003.11:g.128200018A>T , CM000665.1:g.128200018A>T	GRCh37
NC_000003.10:g.129682708A>T	NCBI36
NG_029334.1:g.17013T>A , LRG_295:g.17013T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1287T>A MANE Plus Clinical	ENSP00000417074.1:p.Ser429Arg
ENST00000696466.1:c.1569T>A	ENSP00000512647.1:p.Ser523Arg
ENST00000696672.1:c.262T>A	ENSP00000512796.1:p.Cys88Ser
ENST00000341105.7:c.1287T>A MANE Select	ENSP00000345681.2:p.Ser429Arg
ENST00000341105.6:c.1287T>A	ENSP00000345681.2:p.Ser429Arg
ENST00000430265.6:c.1245T>A	ENSP00000400259.2:p.Ser415Arg
ENST00000487848.5:c.1287T>A	ENSP00000417074.1:p.Ser429Arg
ENST00000489987.1:n.404T>A
NM_001145661.1:c.1287T>A , LRG_295t1:c.1287T>A	NP_001139133.1:p.Ser429Arg
NM_001145662.1:c.1245T>A	NP_001139134.1:p.Ser415Arg
NM_032638.4:c.1287T>A , LRG_295t2:c.1287T>A	NP_116027.2:p.Ser429Arg
NM_001145661.2:c.1287T>A MANE Plus Clinical	NP_001139133.1:p.Ser429Arg
NM_032638.5:c.1287T>A MANE Select	NP_116027.2:p.Ser429Arg