Canonical Allele Identifier: CA1139771361

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184195
• ClinVar RCV Id: RCV001542167
• dbSNP Id: rs2107668582

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481829_128481836dup , CM000665.2:g.128481829_128481836dup	GRCh38
NC_000003.11:g.128200672_128200679dup , CM000665.1:g.128200672_128200679dup	GRCh37
NC_000003.10:g.129683362_129683369dup	NCBI36
NG_029334.1:g.16352_16359dup , LRG_295:g.16352_16359dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1126_1133dup MANE Plus Clinical	ENSP00000417074.1:p.Lys378AsnfsTer12
ENST00000696466.1:c.1408_1415dup	ENSP00000512647.1:p.Lys472AsnfsTer12
ENST00000696672.1:c.109_116dup	ENSP00000512796.1:p.Lys39AsnfsTer?
ENST00000341105.7:c.1126_1133dup MANE Select	ENSP00000345681.2:p.Lys378AsnfsTer12
ENST00000341105.6:c.1126_1133dup	ENSP00000345681.2:p.Lys378AsnfsTer12
ENST00000430265.6:c.1084_1091dup	ENSP00000400259.2:p.Lys364AsnfsTer12
ENST00000487848.5:c.1126_1133dup	ENSP00000417074.1:p.Lys378AsnfsTer12
ENST00000489987.1:n.243_250dup
NM_001145661.1:c.1126_1133dup , LRG_295t1:c.1126_1133dup	NP_001139133.1:p.Lys378AsnfsTer12
NM_001145662.1:c.1084_1091dup	NP_001139134.1:p.Lys364AsnfsTer12
NM_032638.4:c.1126_1133dup , LRG_295t2:c.1126_1133dup	NP_116027.2:p.Lys378AsnfsTer12
NM_001145661.2:c.1126_1133dup MANE Plus Clinical	NP_001139133.1:p.Lys378AsnfsTer12
NM_032638.5:c.1126_1133dup MANE Select	NP_116027.2:p.Lys378AsnfsTer12