Canonical Allele Identifier: CA83376241

Gene: GATA2

Linked Data

• ClinVar Variation Id: 834301
• ClinVar RCV Id: RCV001034955
• dbSNP Id: rs1126559
• gnomAD v2: 3-128199987-C-T
• gnomAD v3: 3-128481144-C-T
• gnomAD v4: 3-128481144-C-T
• MyVariant Identifiers: chr3:g.128199987C>T (hg19) ; chr3:g.128481144C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481144C>T , CM000665.2:g.128481144C>T	GRCh38
NC_000003.11:g.128199987C>T , CM000665.1:g.128199987C>T	GRCh37
NC_000003.10:g.129682677C>T	NCBI36
NG_029334.1:g.17044G>A , LRG_295:g.17044G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1318G>A MANE Plus Clinical	ENSP00000417074.1:p.Val440Met
ENST00000696466.1:c.1600G>A	ENSP00000512647.1:p.Val534Met
ENST00000696672.1:c.293G>A	ENSP00000512796.1:p.Cys98Tyr
ENST00000341105.7:c.1318G>A MANE Select	ENSP00000345681.2:p.Val440Met
ENST00000341105.6:c.1318G>A	ENSP00000345681.2:p.Val440Met
ENST00000430265.6:c.1276G>A	ENSP00000400259.2:p.Val426Met
ENST00000487848.5:c.1318G>A	ENSP00000417074.1:p.Val440Met
ENST00000489987.1:n.435G>A
NM_001145661.1:c.1318G>A , LRG_295t1:c.1318G>A	NP_001139133.1:p.Val440Met
NM_001145662.1:c.1276G>A	NP_001139134.1:p.Val426Met
NM_032638.4:c.1318G>A , LRG_295t2:c.1318G>A	NP_116027.2:p.Val440Met
NM_001145661.2:c.1318G>A MANE Plus Clinical	NP_001139133.1:p.Val440Met
NM_032638.5:c.1318G>A MANE Select	NP_116027.2:p.Val440Met