Canonical Allele Identifier: CA2759522112

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481843dup , CM000665.2:g.128481843dup	GRCh38
NC_000003.11:g.128200686dup , CM000665.1:g.128200686dup	GRCh37
NC_000003.10:g.129683376dup	NCBI36
NG_029334.1:g.16345dup , LRG_295:g.16345dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1119dup MANE Plus Clinical	ENSP00000417074.1:p.Gly374TrpfsTer10
ENST00000696466.1:c.1401dup	ENSP00000512647.1:p.Gly468TrpfsTer10
ENST00000696672.1:c.102dup	ENSP00000512796.1:p.Gly35TrpfsTer11
ENST00000341105.7:c.1119dup MANE Select	ENSP00000345681.2:p.Gly374TrpfsTer10
ENST00000341105.6:c.1119dup	ENSP00000345681.2:p.Gly374TrpfsTer10
ENST00000430265.6:c.1077dup	ENSP00000400259.2:p.Gly360TrpfsTer10
ENST00000487848.5:c.1119dup	ENSP00000417074.1:p.Gly374TrpfsTer10
ENST00000489987.1:n.236dup
NM_001145661.1:c.1119dup , LRG_295t1:c.1119dup	NP_001139133.1:p.Gly374TrpfsTer10
NM_001145662.1:c.1077dup	NP_001139134.1:p.Gly360TrpfsTer10
NM_032638.4:c.1119dup , LRG_295t2:c.1119dup	NP_116027.2:p.Gly374TrpfsTer10
NM_001145661.2:c.1119dup MANE Plus Clinical	NP_001139133.1:p.Gly374TrpfsTer10
NM_032638.5:c.1119dup MANE Select	NP_116027.2:p.Gly374TrpfsTer10