Canonical Allele Identifier: CA2600017

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1161060
• ClinVar RCV Id: RCV001505411
• dbSNP Id: rs771508025
• ExAC: 3:128204943 A / G
• gnomAD v2: 3-128204943-A-G
• gnomAD v3: 3-128486100-A-G
• gnomAD v4: 3-128486100-A-G
• MyVariant Identifiers: chr3:g.128204943A>G (hg19) ; chr3:g.128486100A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128486100A>G , CM000665.2:g.128486100A>G	GRCh38
NC_000003.11:g.128204943A>G , CM000665.1:g.128204943A>G	GRCh37
NC_000003.10:g.129687633A>G	NCBI36
NG_029334.1:g.12088T>C , LRG_295:g.12088T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.498T>C MANE Plus Clinical	ENSP00000417074.1:p.Ser166=
ENST00000696466.1:c.780T>C	ENSP00000512647.1:p.Ser260=
ENST00000341105.7:c.498T>C MANE Select	ENSP00000345681.2:p.Ser166=
ENST00000341105.6:c.498T>C	ENSP00000345681.2:p.Ser166=
ENST00000430265.6:c.498T>C	ENSP00000400259.2:p.Ser166=
ENST00000487848.5:c.498T>C	ENSP00000417074.1:p.Ser166=
NM_001145661.1:c.498T>C , LRG_295t1:c.498T>C	NP_001139133.1:p.Ser166=
NM_001145662.1:c.498T>C	NP_001139134.1:p.Ser166=
NM_032638.4:c.498T>C , LRG_295t2:c.498T>C	NP_116027.2:p.Ser166=
NM_001145661.2:c.498T>C MANE Plus Clinical	NP_001139133.1:p.Ser166=
NM_032638.5:c.498T>C MANE Select	NP_116027.2:p.Ser166=