Canonical Allele Identifier: CA1400719446

Gene: GATA2

Linked Data

• ClinVar Variation Id: 996088
• ClinVar RCV Id: RCV001290368 ; RCV001302428
• dbSNP Id: rs2068696512
• gnomAD v4: 3-128486187-TGGGCCTCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128486198_128486206del , CM000665.2:g.128486198_128486206del	GRCh38
NC_000003.11:g.128205041_128205049del , CM000665.1:g.128205041_128205049del	GRCh37
NC_000003.10:g.129687731_129687739del	NCBI36
NG_029334.1:g.11992_12000del , LRG_295:g.11992_12000del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.402_410del MANE Plus Clinical	ENSP00000417074.1:p.Gly135_Pro137del
ENST00000696466.1:c.684_692del	ENSP00000512647.1:p.Gly229_Pro231del
ENST00000341105.7:c.402_410del MANE Select	ENSP00000345681.2:p.Gly135_Pro137del
ENST00000341105.6:c.402_410del	ENSP00000345681.2:p.Gly135_Pro137del
ENST00000430265.6:c.402_410del	ENSP00000400259.2:p.Gly135_Pro137del
ENST00000487848.5:c.402_410del	ENSP00000417074.1:p.Gly135_Pro137del
ENST00000492608.1:c.402_410del	ENSP00000418132.1:p.Gly135_Pro137del
NM_001145661.1:c.402_410del , LRG_295t1:c.402_410del	NP_001139133.1:p.Gly135_Pro137del
NM_001145662.1:c.402_410del	NP_001139134.1:p.Gly135_Pro137del
NM_032638.4:c.402_410del , LRG_295t2:c.402_410del	NP_116027.2:p.Gly135_Pro137del
NM_001145661.2:c.402_410del MANE Plus Clinical	NP_001139133.1:p.Gly135_Pro137del
NM_032638.5:c.402_410del MANE Select	NP_116027.2:p.Gly135_Pro137del