Canonical Allele Identifier: CA1400714912

Gene: GATA2

Linked Data

• dbSNP Id: rs2068631241

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481757_128481768del , CM000665.2:g.128481757_128481768del	GRCh38
NC_000003.11:g.128200600_128200611del , CM000665.1:g.128200600_128200611del	GRCh37
NC_000003.10:g.129683290_129683301del	NCBI36
NG_029334.1:g.16420_16431del , LRG_295:g.16420_16431del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1143+51_1143+62del MANE Plus Clinical	ENSP00000417074.1:n.1143+51_1143+62del
ENST00000696466.1:c.1425+51_1425+62del	ENSP00000512647.1:n.1425+51_1425+62del
ENST00000696672.1:c.126+51_126+62del	ENSP00000512796.1:n.126+51_126+62del
ENST00000341105.7:c.1143+51_1143+62del MANE Select	ENSP00000345681.2:n.1143+51_1143+62del
ENST00000341105.6:c.1143+51_1143+62del	ENSP00000345681.2:n.1143+51_1143+62del
ENST00000430265.6:c.1101+51_1101+62del	ENSP00000400259.2:n.1101+51_1101+62del
ENST00000487848.5:c.1143+51_1143+62del	ENSP00000417074.1:n.1143+51_1143+62del
ENST00000489987.1:n.260+51_260+62del
NM_001145661.1:c.1143+51_1143+62del , LRG_295t1:c.1143+51_1143+62del	NP_001139133.1:n.1143+51_1143+62del
NM_001145662.1:c.1101+51_1101+62del	NP_001139134.1:n.1101+51_1101+62del
NM_032638.4:c.1143+51_1143+62del , LRG_295t2:c.1143+51_1143+62del	NP_116027.2:n.1143+51_1143+62del
NM_001145661.2:c.1143+51_1143+62del MANE Plus Clinical	NP_001139133.1:n.1143+51_1143+62del
NM_032638.5:c.1143+51_1143+62del MANE Select	NP_116027.2:n.1143+51_1143+62del