Canonical Allele Identifier: CA83376128

Gene: GATA2

Linked Data

• dbSNP Id: rs56402025
• MyVariant Identifiers: chr3:g.128199784del (hg19) ; chr3:g.128480941del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128480942del , CM000665.2:g.128480942del	GRCh38
NC_000003.11:g.128199785del , CM000665.1:g.128199785del	GRCh37
NC_000003.10:g.129682475del	NCBI36
NG_029334.1:g.17247del , LRG_295:g.17247del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.*78del MANE Plus Clinical	ENSP00000417074.1:n.*78del
ENST00000696466.1:c.*78del	ENSP00000512647.1:n.*78del
ENST00000696672.1:c.496del	ENSP00000512796.1:p.Ala166ProfsTer?
ENST00000341105.7:c.*78del MANE Select	ENSP00000345681.2:n.*78del
ENST00000341105.6:c.*78del	ENSP00000345681.2:n.*78del
ENST00000430265.6:c.*78del	ENSP00000400259.2:n.*78del
ENST00000489987.1:n.638del
NM_001145661.1:c.*78del , LRG_295t1:c.*78del	NP_001139133.1:n.*78del
NM_001145662.1:c.*78del	NP_001139134.1:n.*78del
NM_032638.4:c.*78del , LRG_295t2:c.*78del	NP_116027.2:n.*78del
NM_001145661.2:c.*78del MANE Plus Clinical	NP_001139133.1:n.*78del
NM_032638.5:c.*78del MANE Select	NP_116027.2:n.*78del