Canonical Allele Identifier: CA2499216441

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184180
• ClinVar RCV Id: RCV001542149
• dbSNP Id: rs2107668806

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481931_128481947del , CM000665.2:g.128481931_128481947del	GRCh38
NC_000003.11:g.128200774_128200790del , CM000665.1:g.128200774_128200790del	GRCh37
NC_000003.10:g.129683464_129683480del	NCBI36
NG_029334.1:g.16241_16257del , LRG_295:g.16241_16257del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1018-3_1031del
ENST00000696466.1:c.1300-3_1313del
ENST00000341105.7:c.1018-3_1031del
ENST00000341105.6:c.1018-3_1031del
ENST00000430265.6:c.1018-45_1018-29del	ENSP00000400259.2:n.1018-45_1018-29del
ENST00000487848.5:c.1018-3_1031del
ENST00000489987.1:n.132_148del
NM_001145661.1:c.1018-3_1031del , LRG_295t1:c.1018-3_1031del
NM_001145662.1:c.1018-45_1018-29del	NP_001139134.1:n.1018-45_1018-29del
NM_032638.4:c.1018-3_1031del , LRG_295t2:c.1018-3_1031del
NM_001145661.2:c.1018-3_1031del
NM_032638.5:c.1018-3_1031del