Canonical Allele Identifier: CA1400713776

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1003459
• ClinVar RCV Id: RCV001300014
• dbSNP Id: rs2068620357

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481062_128481064del , CM000665.2:g.128481062_128481064del	GRCh38
NC_000003.11:g.128199905_128199907del , CM000665.1:g.128199905_128199907del	GRCh37
NC_000003.10:g.129682595_129682597del	NCBI36
NG_029334.1:g.17125_17127del , LRG_295:g.17125_17127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1399_1401del MANE Plus Clinical	ENSP00000417074.1:p.Phe467del
ENST00000696466.1:c.1681_1683del	ENSP00000512647.1:p.Phe561del
ENST00000696672.1:c.374_376del	ENSP00000512796.1:p.Leu125del
ENST00000341105.7:c.1399_1401del MANE Select	ENSP00000345681.2:p.Phe467del
ENST00000341105.6:c.1399_1401del	ENSP00000345681.2:p.Phe467del
ENST00000430265.6:c.1357_1359del	ENSP00000400259.2:p.Phe453del
ENST00000487848.5:c.1399_1401del	ENSP00000417074.1:p.Phe467del
ENST00000489987.1:n.516_518del
NM_001145661.1:c.1399_1401del , LRG_295t1:c.1399_1401del	NP_001139133.1:p.Phe467del
NM_001145662.1:c.1357_1359del	NP_001139134.1:p.Phe453del
NM_032638.4:c.1399_1401del , LRG_295t2:c.1399_1401del	NP_116027.2:p.Phe467del
NM_001145661.2:c.1399_1401del MANE Plus Clinical	NP_001139133.1:p.Phe467del
NM_032638.5:c.1399_1401del MANE Select	NP_116027.2:p.Phe467del