Canonical Allele Identifier: CA358817

Gene: GATA2

Linked Data

• ClinVar Variation Id: 29716
• ClinVar RCV Id: RCV000022568 ; RCV001542153 ; RCV003764625
• dbSNP Id: rs869320668
• COSMIC: COSM6163278
• MyVariant Identifiers: chr3:g.128200788C>A (hg19) ; chr3:g.128481945C>A (hg38)
• PubMed: PMID:21242295 ; PMID:21765025

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481945C>A , CM000665.2:g.128481945C>A	GRCh38
NC_000003.11:g.128200788C>A , CM000665.1:g.128200788C>A	GRCh37
NC_000003.10:g.129683478C>A	NCBI36
NG_029334.1:g.16243G>T , LRG_295:g.16243G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1018-1G>T MANE Plus Clinical	ENSP00000417074.1:n.1018-1G>T
ENST00000696466.1:c.1300-1G>T	ENSP00000512647.1:n.1300-1G>T
ENST00000341105.7:c.1018-1G>T MANE Select	ENSP00000345681.2:n.1018-1G>T
ENST00000341105.6:c.1018-1G>T	ENSP00000345681.2:n.1018-1G>T
ENST00000430265.6:c.1018-43G>T	ENSP00000400259.2:n.1018-43G>T
ENST00000487848.5:c.1018-1G>T	ENSP00000417074.1:n.1018-1G>T
ENST00000489987.1:n.134G>T
NM_001145661.1:c.1018-1G>T , LRG_295t1:c.1018-1G>T	NP_001139133.1:n.1018-1G>T
NM_001145662.1:c.1018-43G>T	NP_001139134.1:n.1018-43G>T
NM_032638.4:c.1018-1G>T , LRG_295t2:c.1018-1G>T	NP_116027.2:n.1018-1G>T
NM_001145661.2:c.1018-1G>T MANE Plus Clinical	NP_001139133.1:n.1018-1G>T
NM_032638.5:c.1018-1G>T MANE Select	NP_116027.2:n.1018-1G>T