Canonical Allele Identifier: CA354406648

Gene: GATA2

Linked Data

• ClinVar Variation Id: 656906
• ClinVar RCV Id: RCV000813428 ; RCV002495140
• dbSNP Id: rs1559987389
• gnomAD v4: 3-128486104-T-A
• MyVariant Identifiers: chr3:g.128204947T>A (hg19) ; chr3:g.128486104T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128486104T>A , CM000665.2:g.128486104T>A	GRCh38
NC_000003.11:g.128204947T>A , CM000665.1:g.128204947T>A	GRCh37
NC_000003.10:g.129687637T>A	NCBI36
NG_029334.1:g.12084A>T , LRG_295:g.12084A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.494A>T MANE Plus Clinical	ENSP00000417074.1:p.His165Leu
ENST00000696466.1:c.776A>T	ENSP00000512647.1:p.His259Leu
ENST00000341105.7:c.494A>T MANE Select	ENSP00000345681.2:p.His165Leu
ENST00000341105.6:c.494A>T	ENSP00000345681.2:p.His165Leu
ENST00000430265.6:c.494A>T	ENSP00000400259.2:p.His165Leu
ENST00000487848.5:c.494A>T	ENSP00000417074.1:p.His165Leu
NM_001145661.1:c.494A>T , LRG_295t1:c.494A>T	NP_001139133.1:p.His165Leu
NM_001145662.1:c.494A>T	NP_001139134.1:p.His165Leu
NM_032638.4:c.494A>T , LRG_295t2:c.494A>T	NP_116027.2:p.His165Leu
NM_001145661.2:c.494A>T MANE Plus Clinical	NP_001139133.1:p.His165Leu
NM_032638.5:c.494A>T MANE Select	NP_116027.2:p.His165Leu