Canonical Allele Identifier: CA2503548213

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481067_128481068insCTCC , CM000665.2:g.128481067_128481068insCTCC	GRCh38
NC_000003.11:g.128199910_128199911insCTCC , CM000665.1:g.128199910_128199911insCTCC	GRCh37
NC_000003.10:g.129682600_129682601insCTCC	NCBI36
NG_029334.1:g.17120_17121insGGAG , LRG_295:g.17120_17121insGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1394_1395insGGAG MANE Plus Clinical	ENSP00000417074.1:p.Ser466GlufsTer?
ENST00000696466.1:c.1676_1677insGGAG	ENSP00000512647.1:p.Ser560GlufsTer?
ENST00000696672.1:c.369_370insGGAG	ENSP00000512796.1:p.Leu124GlyfsTer13
ENST00000341105.7:c.1394_1395insGGAG MANE Select	ENSP00000345681.2:p.Ser466GlufsTer?
ENST00000341105.6:c.1394_1395insGGAG	ENSP00000345681.2:p.Ser466GlufsTer?
ENST00000430265.6:c.1352_1353insGGAG	ENSP00000400259.2:p.Ser452GlufsTer?
ENST00000487848.5:c.1394_1395insGGAG	ENSP00000417074.1:p.Ser466GlufsTer?
ENST00000489987.1:n.511_512insGGAG
NM_001145661.1:c.1394_1395insGGAG , LRG_295t1:c.1394_1395insGGAG	NP_001139133.1:p.Ser466GlufsTer?
NM_001145662.1:c.1352_1353insGGAG	NP_001139134.1:p.Ser452GlufsTer?
NM_032638.4:c.1394_1395insGGAG , LRG_295t2:c.1394_1395insGGAG	NP_116027.2:p.Ser466GlufsTer?
NM_001145661.2:c.1394_1395insGGAG MANE Plus Clinical	NP_001139133.1:p.Ser466GlufsTer?
NM_032638.5:c.1394_1395insGGAG MANE Select	NP_116027.2:p.Ser466GlufsTer?