Canonical Allele Identifier: CA2577890672

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481121del , CM000665.2:g.128481121del	GRCh38
NC_000003.11:g.128199964del , CM000665.1:g.128199964del	GRCh37
NC_000003.10:g.129682654del	NCBI36
NG_029334.1:g.17068del , LRG_295:g.17068del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1342del MANE Plus Clinical	ENSP00000417074.1:p.His448ThrfsTer29
ENST00000696466.1:c.1624del	ENSP00000512647.1:p.His542ThrfsTer29
ENST00000696672.1:c.317del	ENSP00000512796.1:p.Pro106HisfsTer?
ENST00000341105.7:c.1342del MANE Select	ENSP00000345681.2:p.His448ThrfsTer29
ENST00000341105.6:c.1342del	ENSP00000345681.2:p.His448ThrfsTer29
ENST00000430265.6:c.1300del	ENSP00000400259.2:p.His434ThrfsTer29
ENST00000487848.5:c.1342del	ENSP00000417074.1:p.His448ThrfsTer29
ENST00000489987.1:n.459del
NM_001145661.1:c.1342del , LRG_295t1:c.1342del	NP_001139133.1:p.His448ThrfsTer29
NM_001145662.1:c.1300del	NP_001139134.1:p.His434ThrfsTer29
NM_032638.4:c.1342del , LRG_295t2:c.1342del	NP_116027.2:p.His448ThrfsTer29
NM_001145661.2:c.1342del MANE Plus Clinical	NP_001139133.1:p.His448ThrfsTer29
NM_032638.5:c.1342del MANE Select	NP_116027.2:p.His448ThrfsTer29