Canonical Allele Identifier: CA354412455

Gene: GATA2

Linked Data

• ClinVar Variation Id: 2071695
• ClinVar RCV Id: RCV002949369
• dbSNP Id: rs2068619751
• gnomAD v4: 3-128481045-A-G
• MyVariant Identifiers: chr3:g.128199888A>G (hg19) ; chr3:g.128481045A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481045A>G , CM000665.2:g.128481045A>G	GRCh38
NC_000003.11:g.128199888A>G , CM000665.1:g.128199888A>G	GRCh37
NC_000003.10:g.129682578A>G	NCBI36
NG_029334.1:g.17143T>C , LRG_295:g.17143T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1417T>C MANE Plus Clinical	ENSP00000417074.1:p.Ser473Pro
ENST00000696466.1:c.1699T>C	ENSP00000512647.1:p.Ser567Pro
ENST00000696672.1:c.392T>C	ENSP00000512796.1:p.Val131Ala
ENST00000341105.7:c.1417T>C MANE Select	ENSP00000345681.2:p.Ser473Pro
ENST00000341105.6:c.1417T>C	ENSP00000345681.2:p.Ser473Pro
ENST00000430265.6:c.1375T>C	ENSP00000400259.2:p.Ser459Pro
ENST00000487848.5:c.1417T>C	ENSP00000417074.1:p.Ser473Pro
ENST00000489987.1:n.534T>C
NM_001145661.1:c.1417T>C , LRG_295t1:c.1417T>C	NP_001139133.1:p.Ser473Pro
NM_001145662.1:c.1375T>C	NP_001139134.1:p.Ser459Pro
NM_032638.4:c.1417T>C , LRG_295t2:c.1417T>C	NP_116027.2:p.Ser473Pro
NM_001145661.2:c.1417T>C MANE Plus Clinical	NP_001139133.1:p.Ser473Pro
NM_032638.5:c.1417T>C MANE Select	NP_116027.2:p.Ser473Pro