Canonical Allele Identifier: CA2740090989

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128485829_128485830insGGGGGTGGAAGAGTCCGCTGCTGTAGTCGTGGGC , CM000665.2:g.128485829_128485830insGGGGGTGGAAGAGTCCGCTGCTGTAGTCGTGGGC	GRCh38
NC_000003.11:g.128204672_128204673insGGGGGTGGAAGAGTCCGCTGCTGTAGTCGTGGGC , CM000665.1:g.128204672_128204673insGGGGGTGGAAGAGTCCGCTGCTGTAGTCGTGGGC	GRCh37
NC_000003.10:g.129687362_129687363insGGGGGTGGAAGAGTCCGCTGCTGTAGTCGTGGGC	NCBI36
NG_029334.1:g.12391_12392insCGCCCACGACTACAGCAGCGGACTCTTCCACCCC , LRG_295:g.12391_12392insCGCCCACGACTACAGCAGCGGACTCTTCCACCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.801_802insCGCCCACGACTACAGCAGCGGACTCTTCCACCCC MANE Plus Clinical	ENSP00000417074.1:p.Gly268ArgfsTer25
ENST00000696466.1:c.1083_1084insCGCCCACGACTACAGCAGCGGACTCTTCCACCCC	ENSP00000512647.1:p.Gly362ArgfsTer25
ENST00000341105.7:c.801_802insCGCCCACGACTACAGCAGCGGACTCTTCCACCCC MANE Select	ENSP00000345681.2:p.Gly268ArgfsTer25
ENST00000341105.6:c.801_802insCGCCCACGACTACAGCAGCGGACTCTTCCACCCC	ENSP00000345681.2:p.Gly268ArgfsTer25
ENST00000430265.6:c.801_802insCGCCCACGACTACAGCAGCGGACTCTTCCACCCC	ENSP00000400259.2:p.Gly268ArgfsTer25
ENST00000487848.5:c.801_802insCGCCCACGACTACAGCAGCGGACTCTTCCACCCC	ENSP00000417074.1:p.Gly268ArgfsTer25
NM_001145661.1:c.801_802insCGCCCACGACTACAGCAGCGGACTCTTCCACCCC , LRG_295t1:c.801_802insCGCCCACGACTACAGCAGCGGACTCTTCCACCCC	NP_001139133.1:p.Gly268ArgfsTer25
NM_001145662.1:c.801_802insCGCCCACGACTACAGCAGCGGACTCTTCCACCCC	NP_001139134.1:p.Gly268ArgfsTer25
NM_032638.4:c.801_802insCGCCCACGACTACAGCAGCGGACTCTTCCACCCC , LRG_295t2:c.801_802insCGCCCACGACTACAGCAGCGGACTCTTCCACCCC	NP_116027.2:p.Gly268ArgfsTer25
NM_001145661.2:c.801_802insCGCCCACGACTACAGCAGCGGACTCTTCCACCCC MANE Plus Clinical	NP_001139133.1:p.Gly268ArgfsTer25
NM_032638.5:c.801_802insCGCCCACGACTACAGCAGCGGACTCTTCCACCCC MANE Select	NP_116027.2:p.Gly268ArgfsTer25