Canonical Allele Identifier: CA354412758

Gene: GATA2

Linked Data

• ClinVar Variation Id: 2951817
• ClinVar RCV Id: RCV003812504
• MyVariant Identifiers: chr3:g.128199980T>C (hg19) ; chr3:g.128481137T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481137T>C , CM000665.2:g.128481137T>C	GRCh38
NC_000003.11:g.128199980T>C , CM000665.1:g.128199980T>C	GRCh37
NC_000003.10:g.129682670T>C	NCBI36
NG_029334.1:g.17051A>G , LRG_295:g.17051A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1325A>G MANE Plus Clinical	ENSP00000417074.1:p.His442Arg
ENST00000696466.1:c.1607A>G	ENSP00000512647.1:p.His536Arg
ENST00000696672.1:c.300A>G	ENSP00000512796.1:p.Pro100=
ENST00000341105.7:c.1325A>G MANE Select	ENSP00000345681.2:p.His442Arg
ENST00000341105.6:c.1325A>G	ENSP00000345681.2:p.His442Arg
ENST00000430265.6:c.1283A>G	ENSP00000400259.2:p.His428Arg
ENST00000487848.5:c.1325A>G	ENSP00000417074.1:p.His442Arg
ENST00000489987.1:n.442A>G
NM_001145661.1:c.1325A>G , LRG_295t1:c.1325A>G	NP_001139133.1:p.His442Arg
NM_001145662.1:c.1283A>G	NP_001139134.1:p.His428Arg
NM_032638.4:c.1325A>G , LRG_295t2:c.1325A>G	NP_116027.2:p.His442Arg
NM_001145661.2:c.1325A>G MANE Plus Clinical	NP_001139133.1:p.His442Arg
NM_032638.5:c.1325A>G MANE Select	NP_116027.2:p.His442Arg