Canonical Allele Identifier: CA2837995086

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128486095_128486098dup , CM000665.2:g.128486095_128486098dup	GRCh38
NC_000003.11:g.128204938_128204941dup , CM000665.1:g.128204938_128204941dup	GRCh37
NC_000003.10:g.129687628_129687631dup	NCBI36
NG_029334.1:g.12090_12093dup , LRG_295:g.12090_12093dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.500_503dup MANE Plus Clinical	ENSP00000417074.1:p.His169LeufsTer17
ENST00000696466.1:c.782_785dup	ENSP00000512647.1:p.His263LeufsTer17
ENST00000341105.7:c.500_503dup MANE Select	ENSP00000345681.2:p.His169LeufsTer17
ENST00000341105.6:c.500_503dup	ENSP00000345681.2:p.His169LeufsTer17
ENST00000430265.6:c.500_503dup	ENSP00000400259.2:p.His169LeufsTer17
ENST00000487848.5:c.500_503dup	ENSP00000417074.1:p.His169LeufsTer17
NM_001145661.1:c.500_503dup , LRG_295t1:c.500_503dup	NP_001139133.1:p.His169LeufsTer17
NM_001145662.1:c.500_503dup	NP_001139134.1:p.His169LeufsTer17
NM_032638.4:c.500_503dup , LRG_295t2:c.500_503dup	NP_116027.2:p.His169LeufsTer17
NM_001145661.2:c.500_503dup MANE Plus Clinical	NP_001139133.1:p.His169LeufsTer17
NM_032638.5:c.500_503dup MANE Select	NP_116027.2:p.His169LeufsTer17