Canonical Allele Identifier: CA2499216453

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184189
• ClinVar RCV Id: RCV001542160
• dbSNP Id: rs2107668848

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481940dup , CM000665.2:g.128481940dup	GRCh38
NC_000003.11:g.128200783dup , CM000665.1:g.128200783dup	GRCh37
NC_000003.10:g.129683473dup	NCBI36
NG_029334.1:g.16249dup , LRG_295:g.16249dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1023dup MANE Plus Clinical	ENSP00000417074.1:p.Ala342ArgfsTer?
ENST00000696466.1:c.1305dup	ENSP00000512647.1:p.Ala436ArgfsTer?
ENST00000696672.1:c.6dup	ENSP00000512796.1:p.Ala3ArgfsTer?
ENST00000341105.7:c.1023dup MANE Select	ENSP00000345681.2:p.Ala342ArgfsTer?
ENST00000341105.6:c.1023dup	ENSP00000345681.2:p.Ala342ArgfsTer?
ENST00000430265.6:c.1018-37dup	ENSP00000400259.2:n.1018-37dup
ENST00000487848.5:c.1023dup	ENSP00000417074.1:p.Ala342ArgfsTer?
ENST00000489987.1:n.140dup
NM_001145661.1:c.1023dup , LRG_295t1:c.1023dup	NP_001139133.1:p.Ala342ArgfsTer?
NM_001145662.1:c.1018-37dup	NP_001139134.1:n.1018-37dup
NM_032638.4:c.1023dup , LRG_295t2:c.1023dup	NP_116027.2:p.Ala342ArgfsTer?
NM_001145661.2:c.1023dup MANE Plus Clinical	NP_001139133.1:p.Ala342ArgfsTer?
NM_032638.5:c.1023dup MANE Select	NP_116027.2:p.Ala342ArgfsTer?