Canonical Allele Identifier: CA546415763

Gene: GATA2

Linked Data

• dbSNP Id: rs528395427
• gnomAD v2: 3-128200413-T-TC
• gnomAD v3: 3-128481570-T-TC
• gnomAD v4: 3-128481570-T-TC
• MyVariant Identifiers: chr3:g.128200414_128200415insC (hg19) ; chr3:g.128200413_128200414insC (hg19) ; chr3:g.128481571_128481572insC (hg38) ; chr3:g.128481570_128481571insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481577dup , CM000665.2:g.128481577dup	GRCh38
NC_000003.11:g.128200420dup , CM000665.1:g.128200420dup	GRCh37
NC_000003.10:g.129683110dup	NCBI36
NG_029334.1:g.16617dup , LRG_295:g.16617dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1143+248dup MANE Plus Clinical	ENSP00000417074.1:n.1143+248dup
ENST00000696466.1:c.1425+248dup	ENSP00000512647.1:n.1425+248dup
ENST00000696672.1:c.126+248dup	ENSP00000512796.1:n.126+248dup
ENST00000341105.7:c.1143+248dup MANE Select	ENSP00000345681.2:n.1143+248dup
ENST00000341105.6:c.1143+248dup	ENSP00000345681.2:n.1143+248dup
ENST00000430265.6:c.1101+248dup	ENSP00000400259.2:n.1101+248dup
ENST00000487848.5:c.1143+248dup	ENSP00000417074.1:n.1143+248dup
ENST00000489987.1:n.260+248dup
NM_001145661.1:c.1143+248dup , LRG_295t1:c.1143+248dup	NP_001139133.1:n.1143+248dup
NM_001145662.1:c.1101+248dup	NP_001139134.1:n.1101+248dup
NM_032638.4:c.1143+248dup , LRG_295t2:c.1143+248dup	NP_116027.2:n.1143+248dup
NM_001145661.2:c.1143+248dup MANE Plus Clinical	NP_001139133.1:n.1143+248dup
NM_032638.5:c.1143+248dup MANE Select	NP_116027.2:n.1143+248dup