Canonical Allele Identifier: CA1053361291

Gene: GATA2

Linked Data

• dbSNP Id: rs2068630897
• gnomAD v3: 3-128481712-C-CCCAAG
• gnomAD v4: 3-128481712-C-CCCAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481724_128481728dup , CM000665.2:g.128481724_128481728dup	GRCh38
NC_000003.11:g.128200567_128200571dup , CM000665.1:g.128200567_128200571dup	GRCh37
NC_000003.10:g.129683257_129683261dup	NCBI36
NG_029334.1:g.16471_16475dup , LRG_295:g.16471_16475dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1143+102_1143+106dup MANE Plus Clinical	ENSP00000417074.1:n.1143+102_1143+106dup
ENST00000696466.1:c.1425+102_1425+106dup	ENSP00000512647.1:n.1425+102_1425+106dup
ENST00000696672.1:c.126+102_126+106dup	ENSP00000512796.1:n.126+102_126+106dup
ENST00000341105.7:c.1143+102_1143+106dup MANE Select	ENSP00000345681.2:n.1143+102_1143+106dup
ENST00000341105.6:c.1143+102_1143+106dup	ENSP00000345681.2:n.1143+102_1143+106dup
ENST00000430265.6:c.1101+102_1101+106dup	ENSP00000400259.2:n.1101+102_1101+106dup
ENST00000487848.5:c.1143+102_1143+106dup	ENSP00000417074.1:n.1143+102_1143+106dup
ENST00000489987.1:n.260+102_260+106dup
NM_001145661.1:c.1143+102_1143+106dup , LRG_295t1:c.1143+102_1143+106dup	NP_001139133.1:n.1143+102_1143+106dup
NM_001145662.1:c.1101+102_1101+106dup	NP_001139134.1:n.1101+102_1101+106dup
NM_032638.4:c.1143+102_1143+106dup , LRG_295t2:c.1143+102_1143+106dup	NP_116027.2:n.1143+102_1143+106dup
NM_001145661.2:c.1143+102_1143+106dup MANE Plus Clinical	NP_001139133.1:n.1143+102_1143+106dup
NM_032638.5:c.1143+102_1143+106dup MANE Select	NP_116027.2:n.1143+102_1143+106dup