Canonical Allele Identifier: CA2599805

Gene: GATA2

Linked Data

• ClinVar Variation Id: 2095089
• ClinVar RCV Id: RCV003012166
• dbSNP Id: rs761447305
• ExAC: 3:128200011 C / T
• gnomAD v2: 3-128200011-C-T
• gnomAD v4: 3-128481168-C-T
• MyVariant Identifiers: chr3:g.128200011C>T (hg19) ; chr3:g.128481168C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481168C>T , CM000665.2:g.128481168C>T	GRCh38
NC_000003.11:g.128200011C>T , CM000665.1:g.128200011C>T	GRCh37
NC_000003.10:g.129682701C>T	NCBI36
NG_029334.1:g.17020G>A , LRG_295:g.17020G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1294G>A MANE Plus Clinical	ENSP00000417074.1:p.Ala432Thr
ENST00000696466.1:c.1576G>A	ENSP00000512647.1:p.Ala526Thr
ENST00000696672.1:c.269G>A	ENSP00000512796.1:p.Cys90Tyr
ENST00000341105.7:c.1294G>A MANE Select	ENSP00000345681.2:p.Ala432Thr
ENST00000341105.6:c.1294G>A	ENSP00000345681.2:p.Ala432Thr
ENST00000430265.6:c.1252G>A	ENSP00000400259.2:p.Ala418Thr
ENST00000487848.5:c.1294G>A	ENSP00000417074.1:p.Ala432Thr
ENST00000489987.1:n.411G>A
NM_001145661.1:c.1294G>A , LRG_295t1:c.1294G>A	NP_001139133.1:p.Ala432Thr
NM_001145662.1:c.1252G>A	NP_001139134.1:p.Ala418Thr
NM_032638.4:c.1294G>A , LRG_295t2:c.1294G>A	NP_116027.2:p.Ala432Thr
NM_001145661.2:c.1294G>A MANE Plus Clinical	NP_001139133.1:p.Ala432Thr
NM_032638.5:c.1294G>A MANE Select	NP_116027.2:p.Ala432Thr