Canonical Allele Identifier: CA2599963

Gene: GATA2

Linked Data

• ClinVar Variation Id: 944517
• ClinVar RCV Id: RCV001214932 ; RCV001786451
• dbSNP Id: rs747128645
• ExAC: 3:128204660 TGTA / T
• gnomAD v2: 3-128204660-TGTA-T
• gnomAD v4: 3-128485817-TGTA-T
• MyVariant Identifiers: chr3:g.128204661_128204663del (hg19) ; chr3:g.128485818_128485820del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128485820_128485822del , CM000665.2:g.128485820_128485822del	GRCh38
NC_000003.11:g.128204663_128204665del , CM000665.1:g.128204663_128204665del	GRCh37
NC_000003.10:g.129687353_129687355del	NCBI36
NG_029334.1:g.12368_12370del , LRG_295:g.12368_12370del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.778_780del MANE Plus Clinical	ENSP00000417074.1:p.Tyr260del
ENST00000696466.1:c.1060_1062del	ENSP00000512647.1:p.Tyr354del
ENST00000341105.7:c.778_780del MANE Select	ENSP00000345681.2:p.Tyr260del
ENST00000341105.6:c.778_780del	ENSP00000345681.2:p.Tyr260del
ENST00000430265.6:c.778_780del	ENSP00000400259.2:p.Tyr260del
ENST00000487848.5:c.778_780del	ENSP00000417074.1:p.Tyr260del
NM_001145661.1:c.778_780del , LRG_295t1:c.778_780del	NP_001139133.1:p.Tyr260del
NM_001145662.1:c.778_780del	NP_001139134.1:p.Tyr260del
NM_032638.4:c.778_780del , LRG_295t2:c.778_780del	NP_116027.2:p.Tyr260del
NM_001145661.2:c.778_780del MANE Plus Clinical	NP_001139133.1:p.Tyr260del
NM_032638.5:c.778_780del MANE Select	NP_116027.2:p.Tyr260del