Canonical Allele Identifier: CA2838139403

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128486166_128486167del , CM000665.2:g.128486166_128486167del	GRCh38
NC_000003.11:g.128205009_128205010del , CM000665.1:g.128205009_128205010del	GRCh37
NC_000003.10:g.129687699_129687700del	NCBI36
NG_029334.1:g.12021_12022del , LRG_295:g.12021_12022del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.431_432del MANE Plus Clinical	ENSP00000417074.1:p.Ala144GlyfsTer?
ENST00000696466.1:c.713_714del	ENSP00000512647.1:p.Ala238GlyfsTer?
ENST00000341105.7:c.431_432del MANE Select	ENSP00000345681.2:p.Ala144GlyfsTer?
ENST00000341105.6:c.431_432del	ENSP00000345681.2:p.Ala144GlyfsTer?
ENST00000430265.6:c.431_432del	ENSP00000400259.2:p.Ala144GlyfsTer?
ENST00000487848.5:c.431_432del	ENSP00000417074.1:p.Ala144GlyfsTer?
ENST00000492608.1:c.431_432del	ENSP00000418132.1:p.Ala144GlyfsTer?
NM_001145661.1:c.431_432del , LRG_295t1:c.431_432del	NP_001139133.1:p.Ala144GlyfsTer?
NM_001145662.1:c.431_432del	NP_001139134.1:p.Ala144GlyfsTer?
NM_032638.4:c.431_432del , LRG_295t2:c.431_432del	NP_116027.2:p.Ala144GlyfsTer?
NM_001145661.2:c.431_432del MANE Plus Clinical	NP_001139133.1:p.Ala144GlyfsTer?
NM_032638.5:c.431_432del MANE Select	NP_116027.2:p.Ala144GlyfsTer?