Canonical Allele Identifier: CA915941561

Gene: GATA2

Linked Data

• ClinVar Variation Id: 636528
• ClinVar RCV Id: RCV000788382
• dbSNP Id: rs1576746848

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128483900_128483924dup , CM000665.2:g.128483900_128483924dup	GRCh38
NC_000003.11:g.128202743_128202767dup , CM000665.1:g.128202743_128202767dup	GRCh37
NC_000003.10:g.129685433_129685457dup	NCBI36
NG_029334.1:g.14264_14288dup , LRG_295:g.14264_14288dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.953_977dup MANE Plus Clinical	ENSP00000417074.1:p.Gly327LeufsTer?
ENST00000696466.1:c.1235_1259dup	ENSP00000512647.1:p.Gly421LeufsTer?
ENST00000341105.7:c.953_977dup MANE Select	ENSP00000345681.2:p.Gly327LeufsTer?
ENST00000341105.6:c.953_977dup	ENSP00000345681.2:p.Gly327LeufsTer?
ENST00000430265.6:c.953_977dup	ENSP00000400259.2:p.Gly327LeufsTer?
ENST00000487848.5:c.953_977dup	ENSP00000417074.1:p.Gly327LeufsTer?
NM_001145661.1:c.953_977dup , LRG_295t1:c.953_977dup	NP_001139133.1:p.Gly327LeufsTer?
NM_001145662.1:c.953_977dup	NP_001139134.1:p.Gly327LeufsTer?
NM_032638.4:c.953_977dup , LRG_295t2:c.953_977dup	NP_116027.2:p.Gly327LeufsTer?
NM_001145661.2:c.953_977dup MANE Plus Clinical	NP_001139133.1:p.Gly327LeufsTer?
NM_032638.5:c.953_977dup MANE Select	NP_116027.2:p.Gly327LeufsTer?