Canonical Allele Identifier: CA1139532779

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184173
• ClinVar RCV Id: RCV001542140
• dbSNP Id: rs2107672881

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128486295del , CM000665.2:g.128486295del	GRCh38
NC_000003.11:g.128205138del , CM000665.1:g.128205138del	GRCh37
NC_000003.10:g.129687828del	NCBI36
NG_029334.1:g.11893del , LRG_295:g.11893del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.303del MANE Plus Clinical	ENSP00000417074.1:p.Ala103GlnfsTer16
ENST00000696466.1:c.585del	ENSP00000512647.1:p.Ala197GlnfsTer16
ENST00000341105.7:c.303del MANE Select	ENSP00000345681.2:p.Ala103GlnfsTer16
ENST00000341105.6:c.303del	ENSP00000345681.2:p.Ala103GlnfsTer16
ENST00000430265.6:c.303del	ENSP00000400259.2:p.Ala103GlnfsTer16
ENST00000487848.5:c.303del	ENSP00000417074.1:p.Ala103GlnfsTer16
ENST00000492608.1:c.303del	ENSP00000418132.1:p.Ala103GlnfsTer16
NM_001145661.1:c.303del , LRG_295t1:c.303del	NP_001139133.1:p.Ala103GlnfsTer16
NM_001145662.1:c.303del	NP_001139134.1:p.Ala103GlnfsTer16
NM_032638.4:c.303del , LRG_295t2:c.303del	NP_116027.2:p.Ala103GlnfsTer16
NM_001145661.2:c.303del MANE Plus Clinical	NP_001139133.1:p.Ala103GlnfsTer16
NM_032638.5:c.303del MANE Select	NP_116027.2:p.Ala103GlnfsTer16