Canonical Allele Identifier: CA2599881

Gene: GATA2

Linked Data

• ClinVar Variation Id: 539721
• ClinVar RCV Id: RCV000649503 ; RCV001816622 ; RCV003465414 ; RCV003228971 ; RCV003945647
• dbSNP Id: rs370166358
• ExAC: 3:128200785 C / T
• gnomAD v2: 3-128200785-C-T
• gnomAD v3: 3-128481942-C-T
• gnomAD v4: 3-128481942-C-T
• MyVariant Identifiers: chr3:g.128200785C>T (hg19) ; chr3:g.128481942C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481942C>T , CM000665.2:g.128481942C>T	GRCh38
NC_000003.11:g.128200785C>T , CM000665.1:g.128200785C>T	GRCh37
NC_000003.10:g.129683475C>T	NCBI36
NG_029334.1:g.16246G>A , LRG_295:g.16246G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1020G>A MANE Plus Clinical	ENSP00000417074.1:p.Ser340=
ENST00000696466.1:c.1302G>A	ENSP00000512647.1:p.Ser434=
ENST00000696672.1:c.3G>A	ENSP00000512796.1:p.Ser1=
ENST00000341105.7:c.1020G>A MANE Select	ENSP00000345681.2:p.Ser340=
ENST00000341105.6:c.1020G>A	ENSP00000345681.2:p.Ser340=
ENST00000430265.6:c.1018-40G>A	ENSP00000400259.2:n.1018-40G>A
ENST00000487848.5:c.1020G>A	ENSP00000417074.1:p.Ser340=
ENST00000489987.1:n.137G>A
NM_001145661.1:c.1020G>A , LRG_295t1:c.1020G>A	NP_001139133.1:p.Ser340=
NM_001145662.1:c.1018-40G>A	NP_001139134.1:n.1018-40G>A
NM_032638.4:c.1020G>A , LRG_295t2:c.1020G>A	NP_116027.2:p.Ser340=
NM_001145661.2:c.1020G>A MANE Plus Clinical	NP_001139133.1:p.Ser340=
NM_032638.5:c.1020G>A MANE Select	NP_116027.2:p.Ser340=