Canonical Allele Identifier: CA2499216430

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184191
• ClinVar RCV Id: RCV001542163
• dbSNP Id: rs2107668601

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481838del , CM000665.2:g.128481838del	GRCh38
NC_000003.11:g.128200681del , CM000665.1:g.128200681del	GRCh37
NC_000003.10:g.129683371del	NCBI36
NG_029334.1:g.16350del , LRG_295:g.16350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1124del MANE Plus Clinical	ENSP00000417074.1:p.Leu375ProfsTer12
ENST00000696466.1:c.1406del	ENSP00000512647.1:p.Leu469ProfsTer12
ENST00000696672.1:c.107del	ENSP00000512796.1:p.Leu36ProfsTer?
ENST00000341105.7:c.1124del MANE Select	ENSP00000345681.2:p.Leu375ProfsTer12
ENST00000341105.6:c.1124del	ENSP00000345681.2:p.Leu375ProfsTer12
ENST00000430265.6:c.1082del	ENSP00000400259.2:p.Leu361ProfsTer12
ENST00000487848.5:c.1124del	ENSP00000417074.1:p.Leu375ProfsTer12
ENST00000489987.1:n.241del
NM_001145661.1:c.1124del , LRG_295t1:c.1124del	NP_001139133.1:p.Leu375ProfsTer12
NM_001145662.1:c.1082del	NP_001139134.1:p.Leu361ProfsTer12
NM_032638.4:c.1124del , LRG_295t2:c.1124del	NP_116027.2:p.Leu375ProfsTer12
NM_001145661.2:c.1124del MANE Plus Clinical	NP_001139133.1:p.Leu375ProfsTer12
NM_032638.5:c.1124del MANE Select	NP_116027.2:p.Leu375ProfsTer12