Canonical Allele Identifier: CA658796375

Gene: GATA2

Linked Data

• ClinVar Variation Id: 504117
• ClinVar RCV Id: RCV000599375
• dbSNP Id: rs1553771050
• MyVariant Identifiers: chr3:g.128205096dup (hg19) ; chr3:g.128486253dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128486256dup , CM000665.2:g.128486256dup	GRCh38
NC_000003.11:g.128205099dup , CM000665.1:g.128205099dup	GRCh37
NC_000003.10:g.129687789dup	NCBI36
NG_029334.1:g.11935dup , LRG_295:g.11935dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.345dup MANE Plus Clinical	ENSP00000417074.1:p.Trp116LeufsTer?
ENST00000696466.1:c.627dup	ENSP00000512647.1:p.Trp210LeufsTer?
ENST00000341105.7:c.345dup MANE Select	ENSP00000345681.2:p.Trp116LeufsTer?
ENST00000341105.6:c.345dup	ENSP00000345681.2:p.Trp116LeufsTer?
ENST00000430265.6:c.345dup	ENSP00000400259.2:p.Trp116LeufsTer?
ENST00000487848.5:c.345dup	ENSP00000417074.1:p.Trp116LeufsTer?
ENST00000492608.1:c.345dup	ENSP00000418132.1:p.Trp116LeufsTer?
NM_001145661.1:c.345dup , LRG_295t1:c.345dup	NP_001139133.1:p.Trp116LeufsTer?
NM_001145662.1:c.345dup	NP_001139134.1:p.Trp116LeufsTer?
NM_032638.4:c.345dup , LRG_295t2:c.345dup	NP_116027.2:p.Trp116LeufsTer?
NM_001145661.2:c.345dup MANE Plus Clinical	NP_001139133.1:p.Trp116LeufsTer?
NM_032638.5:c.345dup MANE Select	NP_116027.2:p.Trp116LeufsTer?