Canonical Allele Identifier: CA2499216439

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184179
• ClinVar RCV Id: RCV001542148
• dbSNP Id: rs2107668773

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481925_128481954del , CM000665.2:g.128481925_128481954del	GRCh38
NC_000003.11:g.128200768_128200797del , CM000665.1:g.128200768_128200797del	GRCh37
NC_000003.10:g.129683458_129683487del	NCBI36
NG_029334.1:g.16234_16263del , LRG_295:g.16234_16263del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1018-10_1037del
ENST00000696466.1:c.1300-10_1319del
ENST00000341105.7:c.1018-10_1037del
ENST00000341105.6:c.1018-10_1037del
ENST00000430265.6:c.1018-52_1018-23del	ENSP00000400259.2:n.1018-52_1018-23del
ENST00000487848.5:c.1018-10_1037del
ENST00000489987.1:n.125_154del
NM_001145661.1:c.1018-10_1037del , LRG_295t1:c.1018-10_1037del
NM_001145662.1:c.1018-52_1018-23del	NP_001139134.1:n.1018-52_1018-23del
NM_032638.4:c.1018-10_1037del , LRG_295t2:c.1018-10_1037del
NM_001145661.2:c.1018-10_1037del
NM_032638.5:c.1018-10_1037del