Canonical Allele Identifier: CA2580068700

Gene: GATA2

Linked Data

• ClinVar Variation Id: 2004099
• ClinVar RCV Id: RCV002815853

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481315dup , CM000665.2:g.128481315dup	GRCh38
NC_000003.11:g.128200158dup , CM000665.1:g.128200158dup	GRCh37
NC_000003.10:g.129682848dup	NCBI36
NG_029334.1:g.16874dup , LRG_295:g.16874dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1148dup MANE Plus Clinical	ENSP00000417074.1:p.Asn383LysfsTer?
ENST00000696466.1:c.1430dup	ENSP00000512647.1:p.Asn477LysfsTer?
ENST00000696672.1:c.127-4dup	ENSP00000512796.1:n.127-4dup
ENST00000341105.7:c.1148dup MANE Select	ENSP00000345681.2:p.Asn383LysfsTer?
ENST00000341105.6:c.1148dup	ENSP00000345681.2:p.Asn383LysfsTer?
ENST00000430265.6:c.1106dup	ENSP00000400259.2:p.Asn369LysfsTer?
ENST00000487848.5:c.1148dup	ENSP00000417074.1:p.Asn383LysfsTer?
ENST00000489987.1:n.265dup
NM_001145661.1:c.1148dup , LRG_295t1:c.1148dup	NP_001139133.1:p.Asn383LysfsTer?
NM_001145662.1:c.1106dup	NP_001139134.1:p.Asn369LysfsTer?
NM_032638.4:c.1148dup , LRG_295t2:c.1148dup	NP_116027.2:p.Asn383LysfsTer?
NM_001145661.2:c.1148dup MANE Plus Clinical	NP_001139133.1:p.Asn383LysfsTer?
NM_032638.5:c.1148dup MANE Select	NP_116027.2:p.Asn383LysfsTer?