Canonical Allele Identifier: CA2600039

Gene: GATA2

Linked Data

• ClinVar Variation Id: 858280
• ClinVar RCV Id: RCV001064124
• dbSNP Id: rs777017660
• ExAC: 3:128205101 TGTG / T
• gnomAD v2: 3-128205101-TGTG-T
• gnomAD v4: 3-128486258-TGTG-T
• MyVariant Identifiers: chr3:g.128205102_128205104del (hg19) ; chr3:g.128486259_128486261del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128486266_128486268del , CM000665.2:g.128486266_128486268del	GRCh38
NC_000003.11:g.128205109_128205111del , CM000665.1:g.128205109_128205111del	GRCh37
NC_000003.10:g.129687799_129687801del	NCBI36
NG_029334.1:g.11927_11929del , LRG_295:g.11927_11929del

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.337_339del MANE Plus Clinical	ENSP00000417074.1:p.His113del
ENST00000696466.1:c.619_621del	ENSP00000512647.1:p.His207del
ENST00000341105.7:c.337_339del MANE Select	ENSP00000345681.2:p.His113del
ENST00000341105.6:c.337_339del	ENSP00000345681.2:p.His113del
ENST00000430265.6:c.337_339del	ENSP00000400259.2:p.His113del
ENST00000487848.5:c.337_339del	ENSP00000417074.1:p.His113del
ENST00000492608.1:c.337_339del	ENSP00000418132.1:p.His113del
NM_001145661.1:c.337_339del , LRG_295t1:c.337_339del	NP_001139133.1:p.His113del
NM_001145662.1:c.337_339del	NP_001139134.1:p.His113del
NM_032638.4:c.337_339del , LRG_295t2:c.337_339del	NP_116027.2:p.His113del
NM_001145661.2:c.337_339del MANE Plus Clinical	NP_001139133.1:p.His113del
NM_032638.5:c.337_339del MANE Select	NP_116027.2:p.His113del