Canonical Allele Identifier: CA2586965881

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128483931_128483934dup , CM000665.2:g.128483931_128483934dup	GRCh38
NC_000003.11:g.128202774_128202777dup , CM000665.1:g.128202774_128202777dup	GRCh37
NC_000003.10:g.129685464_129685467dup	NCBI36
NG_029334.1:g.14254_14257dup , LRG_295:g.14254_14257dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.943_946dup MANE Plus Clinical	ENSP00000417074.1:p.Cys316SerfsTer?
ENST00000696466.1:c.1225_1228dup	ENSP00000512647.1:p.Cys410SerfsTer?
ENST00000341105.7:c.943_946dup MANE Select	ENSP00000345681.2:p.Cys316SerfsTer?
ENST00000341105.6:c.943_946dup	ENSP00000345681.2:p.Cys316SerfsTer?
ENST00000430265.6:c.943_946dup	ENSP00000400259.2:p.Cys316SerfsTer?
ENST00000487848.5:c.943_946dup	ENSP00000417074.1:p.Cys316SerfsTer?
NM_001145661.1:c.943_946dup , LRG_295t1:c.943_946dup	NP_001139133.1:p.Cys316SerfsTer?
NM_001145662.1:c.943_946dup	NP_001139134.1:p.Cys316SerfsTer?
NM_032638.4:c.943_946dup , LRG_295t2:c.943_946dup	NP_116027.2:p.Cys316SerfsTer?
NM_001145661.2:c.943_946dup MANE Plus Clinical	NP_001139133.1:p.Cys316SerfsTer?
NM_032638.5:c.943_946dup MANE Select	NP_116027.2:p.Cys316SerfsTer?