Canonical Allele Identifier: CA2759522110

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481845dup , CM000665.2:g.128481845dup	GRCh38
NC_000003.11:g.128200688dup , CM000665.1:g.128200688dup	GRCh37
NC_000003.10:g.129683378dup	NCBI36
NG_029334.1:g.16343dup , LRG_295:g.16343dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1117dup MANE Plus Clinical	ENSP00000417074.1:p.Cys373LeufsTer11
ENST00000696466.1:c.1399dup	ENSP00000512647.1:p.Cys467LeufsTer11
ENST00000696672.1:c.100dup	ENSP00000512796.1:p.Cys34LeufsTer12
ENST00000341105.7:c.1117dup MANE Select	ENSP00000345681.2:p.Cys373LeufsTer11
ENST00000341105.6:c.1117dup	ENSP00000345681.2:p.Cys373LeufsTer11
ENST00000430265.6:c.1075dup	ENSP00000400259.2:p.Cys359LeufsTer11
ENST00000487848.5:c.1117dup	ENSP00000417074.1:p.Cys373LeufsTer11
ENST00000489987.1:n.234dup
NM_001145661.1:c.1117dup , LRG_295t1:c.1117dup	NP_001139133.1:p.Cys373LeufsTer11
NM_001145662.1:c.1075dup	NP_001139134.1:p.Cys359LeufsTer11
NM_032638.4:c.1117dup , LRG_295t2:c.1117dup	NP_116027.2:p.Cys373LeufsTer11
NM_001145661.2:c.1117dup MANE Plus Clinical	NP_001139133.1:p.Cys373LeufsTer11
NM_032638.5:c.1117dup MANE Select	NP_116027.2:p.Cys373LeufsTer11