Canonical Allele Identifier: CA83371757

Gene: GATA2

Linked Data

• ClinVar Variation Id: 954292
• ClinVar RCV Id: RCV001226728
• dbSNP Id: rs866323045
• gnomAD v2: 3-128204643-G-T
• gnomAD v4: 3-128485800-G-T
• MyVariant Identifiers: chr3:g.128204643G>T (hg19) ; chr3:g.128485800G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128485800G>T , CM000665.2:g.128485800G>T	GRCh38
NC_000003.11:g.128204643G>T , CM000665.1:g.128204643G>T	GRCh37
NC_000003.10:g.129687333G>T	NCBI36
NG_029334.1:g.12388C>A , LRG_295:g.12388C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.798C>A MANE Plus Clinical	ENSP00000417074.1:p.His266Gln
ENST00000696466.1:c.1080C>A	ENSP00000512647.1:p.His360Gln
ENST00000341105.7:c.798C>A MANE Select	ENSP00000345681.2:p.His266Gln
ENST00000341105.6:c.798C>A	ENSP00000345681.2:p.His266Gln
ENST00000430265.6:c.798C>A	ENSP00000400259.2:p.His266Gln
ENST00000487848.5:c.798C>A	ENSP00000417074.1:p.His266Gln
NM_001145661.1:c.798C>A , LRG_295t1:c.798C>A	NP_001139133.1:p.His266Gln
NM_001145662.1:c.798C>A	NP_001139134.1:p.His266Gln
NM_032638.4:c.798C>A , LRG_295t2:c.798C>A	NP_116027.2:p.His266Gln
NM_001145661.2:c.798C>A MANE Plus Clinical	NP_001139133.1:p.His266Gln
NM_032638.5:c.798C>A MANE Select	NP_116027.2:p.His266Gln