Canonical Allele Identifier: CA915940965

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481826del , CM000665.2:g.128481826del	GRCh38
NC_000003.11:g.128200669del , CM000665.1:g.128200669del	GRCh37
NC_000003.10:g.129683359del	NCBI36
NG_029334.1:g.16362del , LRG_295:g.16362del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1136del MANE Plus Clinical	ENSP00000417074.1:p.Leu379ArgfsTer8
ENST00000696466.1:c.1418del	ENSP00000512647.1:p.Leu473ArgfsTer8
ENST00000696672.1:c.119del	ENSP00000512796.1:p.Leu40ArgfsTer?
ENST00000341105.7:c.1136del MANE Select	ENSP00000345681.2:p.Leu379ArgfsTer8
ENST00000341105.6:c.1136del	ENSP00000345681.2:p.Leu379ArgfsTer8
ENST00000430265.6:c.1094del	ENSP00000400259.2:p.Leu365ArgfsTer8
ENST00000487848.5:c.1136del	ENSP00000417074.1:p.Leu379ArgfsTer8
ENST00000489987.1:n.253del
NM_001145661.1:c.1136del , LRG_295t1:c.1136del	NP_001139133.1:p.Leu379ArgfsTer8
NM_001145662.1:c.1094del	NP_001139134.1:p.Leu365ArgfsTer8
NM_032638.4:c.1136del , LRG_295t2:c.1136del	NP_116027.2:p.Leu379ArgfsTer8
NM_001145661.2:c.1136del MANE Plus Clinical	NP_001139133.1:p.Leu379ArgfsTer8
NM_032638.5:c.1136del MANE Select	NP_116027.2:p.Leu379ArgfsTer8