Canonical Allele Identifier: CA2580610854

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481849dup , CM000665.2:g.128481849dup	GRCh38
NC_000003.11:g.128200692dup , CM000665.1:g.128200692dup	GRCh37
NC_000003.10:g.129683382dup	NCBI36
NG_029334.1:g.16339dup , LRG_295:g.16339dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1113dup MANE Plus Clinical	ENSP00000417074.1:p.Ala372ArgfsTer12
ENST00000696466.1:c.1395dup	ENSP00000512647.1:p.Ala466ArgfsTer12
ENST00000696672.1:c.96dup	ENSP00000512796.1:p.Ala33ArgfsTer13
ENST00000341105.7:c.1113dup MANE Select	ENSP00000345681.2:p.Ala372ArgfsTer12
ENST00000341105.6:c.1113dup	ENSP00000345681.2:p.Ala372ArgfsTer12
ENST00000430265.6:c.1071dup	ENSP00000400259.2:p.Ala358ArgfsTer12
ENST00000487848.5:c.1113dup	ENSP00000417074.1:p.Ala372ArgfsTer12
ENST00000489987.1:n.230dup
NM_001145661.1:c.1113dup , LRG_295t1:c.1113dup	NP_001139133.1:p.Ala372ArgfsTer12
NM_001145662.1:c.1071dup	NP_001139134.1:p.Ala358ArgfsTer12
NM_032638.4:c.1113dup , LRG_295t2:c.1113dup	NP_116027.2:p.Ala372ArgfsTer12
NM_001145661.2:c.1113dup MANE Plus Clinical	NP_001139133.1:p.Ala372ArgfsTer12
NM_032638.5:c.1113dup MANE Select	NP_116027.2:p.Ala372ArgfsTer12