Canonical Allele Identifier: CA658820609

Gene: GATA2

Linked Data

• ClinVar Variation Id: 29722
• ClinVar RCV Id: RCV000022574 ; RCV001542228
• dbSNP Id: rs1576745225

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481897_128481899del , CM000665.2:g.128481897_128481899del	GRCh38
NC_000003.11:g.128200740_128200742del , CM000665.1:g.128200740_128200742del	GRCh37
NC_000003.10:g.129683430_129683432del	NCBI36
NG_029334.1:g.16291_16293del , LRG_295:g.16291_16293del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1065_1067del MANE Plus Clinical	ENSP00000417074.1:p.Thr356del
ENST00000696466.1:c.1347_1349del	ENSP00000512647.1:p.Thr450del
ENST00000696672.1:c.48_50del	ENSP00000512796.1:p.Thr17del
ENST00000341105.7:c.1065_1067del MANE Select	ENSP00000345681.2:p.Thr356del
ENST00000341105.6:c.1065_1067del	ENSP00000345681.2:p.Thr356del
ENST00000430265.6:c.1023_1025del	ENSP00000400259.2:p.Thr342del
ENST00000487848.5:c.1065_1067del	ENSP00000417074.1:p.Thr356del
ENST00000489987.1:n.182_184del
NM_001145661.1:c.1065_1067del , LRG_295t1:c.1065_1067del	NP_001139133.1:p.Thr356del
NM_001145662.1:c.1023_1025del	NP_001139134.1:p.Thr342del
NM_032638.4:c.1065_1067del , LRG_295t2:c.1065_1067del	NP_116027.2:p.Thr356del
NM_001145661.2:c.1065_1067del MANE Plus Clinical	NP_001139133.1:p.Thr356del
NM_032638.5:c.1065_1067del MANE Select	NP_116027.2:p.Thr356del