Canonical Allele Identifier: CA10576018

Gene: GATA2

Linked Data

• ClinVar Variation Id: 225277
• ClinVar RCV Id: RCV000210903 ; RCV000704724
• dbSNP Id: rs869320770
• MyVariant Identifiers: chr3:g.128200781_128200784dupCGGC (hg19) ; chr3:g.128200780_128200781insCGGC (hg19) ; chr3:g.128481938_128481941dupCGGC (hg38) ; chr3:g.128481937_128481938insCGGC (hg38)
• PubMed: PMID:2543925 ; PMID:23365458

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481940_128481943dup , CM000665.2:g.128481940_128481943dup	GRCh38
NC_000003.11:g.128200783_128200786dup , CM000665.1:g.128200783_128200786dup	GRCh37
NC_000003.10:g.129683473_129683476dup	NCBI36
NG_029334.1:g.16247_16250dup , LRG_295:g.16247_16250dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.1021_1024dup MANE Plus Clinical	ENSP00000417074.1:p.Ala342GlyfsTer?
ENST00000696466.1:c.1303_1306dup	ENSP00000512647.1:p.Ala436GlyfsTer?
ENST00000696672.1:c.4_7dup	ENSP00000512796.1:p.Ala3GlyfsTer?
ENST00000341105.7:c.1021_1024dup MANE Select	ENSP00000345681.2:p.Ala342GlyfsTer?
ENST00000341105.6:c.1021_1024dup	ENSP00000345681.2:p.Ala342GlyfsTer?
ENST00000430265.6:c.1018-39_1018-36dup	ENSP00000400259.2:n.1018-39_1018-36dup
ENST00000487848.5:c.1021_1024dup	ENSP00000417074.1:p.Ala342GlyfsTer?
ENST00000489987.1:n.138_141dup
NM_001145661.1:c.1021_1024dup , LRG_295t1:c.1021_1024dup	NP_001139133.1:p.Ala342GlyfsTer?
NM_001145662.1:c.1018-39_1018-36dup	NP_001139134.1:n.1018-39_1018-36dup
NM_032638.4:c.1021_1024dup , LRG_295t2:c.1021_1024dup	NP_116027.2:p.Ala342GlyfsTer?
NM_001145661.2:c.1021_1024dup MANE Plus Clinical	NP_001139133.1:p.Ala342GlyfsTer?
NM_032638.5:c.1021_1024dup MANE Select	NP_116027.2:p.Ala342GlyfsTer?