Canonical Allele Identifier: CA1139532785

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184207
• ClinVar RCV Id: RCV001542180
• dbSNP Id: rs2107672703

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128486181dup , CM000665.2:g.128486181dup	GRCh38
NC_000003.11:g.128205024dup , CM000665.1:g.128205024dup	GRCh37
NC_000003.10:g.129687714dup	NCBI36
NG_029334.1:g.12007dup , LRG_295:g.12007dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.417dup MANE Plus Clinical	ENSP00000417074.1:p.Val140CysfsTer?
ENST00000696466.1:c.699dup	ENSP00000512647.1:p.Val234CysfsTer?
ENST00000341105.7:c.417dup MANE Select	ENSP00000345681.2:p.Val140CysfsTer?
ENST00000341105.6:c.417dup	ENSP00000345681.2:p.Val140CysfsTer?
ENST00000430265.6:c.417dup	ENSP00000400259.2:p.Val140CysfsTer?
ENST00000487848.5:c.417dup	ENSP00000417074.1:p.Val140CysfsTer?
ENST00000492608.1:c.417dup	ENSP00000418132.1:p.Val140CysfsTer?
NM_001145661.1:c.417dup , LRG_295t1:c.417dup	NP_001139133.1:p.Val140CysfsTer?
NM_001145662.1:c.417dup	NP_001139134.1:p.Val140CysfsTer?
NM_032638.4:c.417dup , LRG_295t2:c.417dup	NP_116027.2:p.Val140CysfsTer?
NM_001145661.2:c.417dup MANE Plus Clinical	NP_001139133.1:p.Val140CysfsTer?
NM_032638.5:c.417dup MANE Select	NP_116027.2:p.Val140CysfsTer?