Canonical Allele Identifier: CA2667540457

Gene: GATA2

Linked Data

• gnomAD v4: 3-128481728-C-CTGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481730_128481733dup , CM000665.2:g.128481730_128481733dup	GRCh38
NC_000003.11:g.128200573_128200576dup , CM000665.1:g.128200573_128200576dup	GRCh37
NC_000003.10:g.129683263_129683266dup	NCBI36
NG_029334.1:g.16456_16459dup , LRG_295:g.16456_16459dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1143+87_1143+90dup MANE Plus Clinical	ENSP00000417074.1:n.1143+87_1143+90dup
ENST00000696466.1:c.1425+87_1425+90dup	ENSP00000512647.1:n.1425+87_1425+90dup
ENST00000696672.1:c.126+87_126+90dup	ENSP00000512796.1:n.126+87_126+90dup
ENST00000341105.7:c.1143+87_1143+90dup MANE Select	ENSP00000345681.2:n.1143+87_1143+90dup
ENST00000341105.6:c.1143+87_1143+90dup	ENSP00000345681.2:n.1143+87_1143+90dup
ENST00000430265.6:c.1101+87_1101+90dup	ENSP00000400259.2:n.1101+87_1101+90dup
ENST00000487848.5:c.1143+87_1143+90dup	ENSP00000417074.1:n.1143+87_1143+90dup
ENST00000489987.1:n.260+87_260+90dup
NM_001145661.1:c.1143+87_1143+90dup , LRG_295t1:c.1143+87_1143+90dup	NP_001139133.1:n.1143+87_1143+90dup
NM_001145662.1:c.1101+87_1101+90dup	NP_001139134.1:n.1101+87_1101+90dup
NM_032638.4:c.1143+87_1143+90dup , LRG_295t2:c.1143+87_1143+90dup	NP_116027.2:n.1143+87_1143+90dup
NM_001145661.2:c.1143+87_1143+90dup MANE Plus Clinical	NP_001139133.1:n.1143+87_1143+90dup
NM_032638.5:c.1143+87_1143+90dup MANE Select	NP_116027.2:n.1143+87_1143+90dup