Canonical Allele Identifier: CA2667540437

Gene: GATA2

Linked Data

• gnomAD v4: 3-128481712-CCCAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481724_128481728del , CM000665.2:g.128481724_128481728del	GRCh38
NC_000003.11:g.128200567_128200571del , CM000665.1:g.128200567_128200571del	GRCh37
NC_000003.10:g.129683257_129683261del	NCBI36
NG_029334.1:g.16471_16475del , LRG_295:g.16471_16475del

Transcript Alleles

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