Canonical Allele Identifier: CA915941554

Gene: GATA2

Linked Data

• ClinVar Variation Id: 800680
• ClinVar RCV Id: RCV000984826
• dbSNP Id: rs1576744575

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481302_128481303dup , CM000665.2:g.128481302_128481303dup	GRCh38
NC_000003.11:g.128200145_128200146dup , CM000665.1:g.128200145_128200146dup	GRCh37
NC_000003.10:g.129682835_129682836dup	NCBI36
NG_029334.1:g.16885_16886dup , LRG_295:g.16885_16886dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1159_1160dup MANE Plus Clinical	ENSP00000417074.1:p.Met388ProfsTer2
ENST00000696466.1:c.1441_1442dup	ENSP00000512647.1:p.Met482ProfsTer2
ENST00000696672.1:c.134_135dup	ENSP00000512796.1:p.His46ThrfsTer?
ENST00000341105.7:c.1159_1160dup MANE Select	ENSP00000345681.2:p.Met388ProfsTer2
ENST00000341105.6:c.1159_1160dup	ENSP00000345681.2:p.Met388ProfsTer2
ENST00000430265.6:c.1117_1118dup	ENSP00000400259.2:p.Met374ProfsTer2
ENST00000487848.5:c.1159_1160dup	ENSP00000417074.1:p.Met388ProfsTer2
ENST00000489987.1:n.276_277dup
NM_001145661.1:c.1159_1160dup , LRG_295t1:c.1159_1160dup	NP_001139133.1:p.Met388ProfsTer2
NM_001145662.1:c.1117_1118dup	NP_001139134.1:p.Met374ProfsTer2
NM_032638.4:c.1159_1160dup , LRG_295t2:c.1159_1160dup	NP_116027.2:p.Met388ProfsTer2
NM_001145661.2:c.1159_1160dup MANE Plus Clinical	NP_001139133.1:p.Met388ProfsTer2
NM_032638.5:c.1159_1160dup MANE Select	NP_116027.2:p.Met388ProfsTer2