Canonical Allele Identifier: CA898649014

Gene: GATA2

Linked Data

• ClinVar Variation Id: 2928731
• ClinVar RCV Id: RCV003789505
• dbSNP Id: rs1385585162
• gnomAD v3: 3-128483269-C-CT
• gnomAD v4: 3-128483269-C-CT
• MyVariant Identifiers: chr3:g.128202112_128202113insT (hg19) ; chr3:g.128483269_128483270insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128483270dup , CM000665.2:g.128483270dup	GRCh38
NC_000003.11:g.128202113dup , CM000665.1:g.128202113dup	GRCh37
NC_000003.10:g.129684803dup	NCBI36
NG_029334.1:g.14918dup , LRG_295:g.14918dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.1017+590dup MANE Plus Clinical	ENSP00000417074.1:n.1017+590dup
ENST00000696466.1:c.1299+590dup	ENSP00000512647.1:n.1299+590dup
ENST00000341105.7:c.1017+590dup MANE Select	ENSP00000345681.2:n.1017+590dup
ENST00000341105.6:c.1017+590dup	ENSP00000345681.2:n.1017+590dup
ENST00000430265.6:c.1017+590dup	ENSP00000400259.2:n.1017+590dup
ENST00000487848.5:c.1017+590dup	ENSP00000417074.1:n.1017+590dup
NM_001145661.1:c.1017+590dup , LRG_295t1:c.1017+590dup	NP_001139133.1:n.1017+590dup
NM_001145662.1:c.1017+590dup	NP_001139134.1:n.1017+590dup
NM_032638.4:c.1017+590dup , LRG_295t2:c.1017+590dup	NP_116027.2:n.1017+590dup
NM_001145661.2:c.1017+590dup MANE Plus Clinical	NP_001139133.1:n.1017+590dup
NM_032638.5:c.1017+590dup MANE Select	NP_116027.2:n.1017+590dup