Canonical Allele Identifier: CA2586965876

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481927_128481931dup , CM000665.2:g.128481927_128481931dup	GRCh38
NC_000003.11:g.128200770_128200774dup , CM000665.1:g.128200770_128200774dup	GRCh37
NC_000003.10:g.129683460_129683464dup	NCBI36
NG_029334.1:g.16258_16262dup , LRG_295:g.16258_16262dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1032_1036dup MANE Plus Clinical	ENSP00000417074.1:p.Gly346GlufsTer?
ENST00000696466.1:c.1314_1318dup	ENSP00000512647.1:p.Gly440GlufsTer?
ENST00000696672.1:c.15_19dup	ENSP00000512796.1:p.Gly7GlufsTer?
ENST00000341105.7:c.1032_1036dup MANE Select	ENSP00000345681.2:p.Gly346GlufsTer?
ENST00000341105.6:c.1032_1036dup	ENSP00000345681.2:p.Gly346GlufsTer?
ENST00000430265.6:c.1018-28_1018-24dup	ENSP00000400259.2:n.1018-28_1018-24dup
ENST00000487848.5:c.1032_1036dup	ENSP00000417074.1:p.Gly346GlufsTer?
ENST00000489987.1:n.149_153dup
NM_001145661.1:c.1032_1036dup , LRG_295t1:c.1032_1036dup	NP_001139133.1:p.Gly346GlufsTer?
NM_001145662.1:c.1018-28_1018-24dup	NP_001139134.1:n.1018-28_1018-24dup
NM_032638.4:c.1032_1036dup , LRG_295t2:c.1032_1036dup	NP_116027.2:p.Gly346GlufsTer?
NM_001145661.2:c.1032_1036dup MANE Plus Clinical	NP_001139133.1:p.Gly346GlufsTer?
NM_032638.5:c.1032_1036dup MANE Select	NP_116027.2:p.Gly346GlufsTer?