Canonical Allele Identifier: CA354412989

Gene: GATA2

Linked Data

• ClinVar Variation Id: 539710
• ClinVar RCV Id: RCV000649492
• dbSNP Id: rs1553770425
• gnomAD v4: 3-128481214-C-G
• MyVariant Identifiers: chr3:g.128200057C>G (hg19) ; chr3:g.128481214C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481214C>G , CM000665.2:g.128481214C>G	GRCh38
NC_000003.11:g.128200057C>G , CM000665.1:g.128200057C>G	GRCh37
NC_000003.10:g.129682747C>G	NCBI36
NG_029334.1:g.16974G>C , LRG_295:g.16974G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1248G>C MANE Plus Clinical	ENSP00000417074.1:p.Glu416Asp
ENST00000696466.1:c.1530G>C	ENSP00000512647.1:p.Glu510Asp
ENST00000696672.1:c.223G>C	ENSP00000512796.1:p.Ala75Pro
ENST00000341105.7:c.1248G>C MANE Select	ENSP00000345681.2:p.Glu416Asp
ENST00000341105.6:c.1248G>C	ENSP00000345681.2:p.Glu416Asp
ENST00000430265.6:c.1206G>C	ENSP00000400259.2:p.Glu402Asp
ENST00000487848.5:c.1248G>C	ENSP00000417074.1:p.Glu416Asp
ENST00000489987.1:n.365G>C
NM_001145661.1:c.1248G>C , LRG_295t1:c.1248G>C	NP_001139133.1:p.Glu416Asp
NM_001145662.1:c.1206G>C	NP_001139134.1:p.Glu402Asp
NM_032638.4:c.1248G>C , LRG_295t2:c.1248G>C	NP_116027.2:p.Glu416Asp
NM_001145661.2:c.1248G>C MANE Plus Clinical	NP_001139133.1:p.Glu416Asp
NM_032638.5:c.1248G>C MANE Select	NP_116027.2:p.Glu416Asp