Canonical Allele Identifier: CA546099433

Gene: GATA2 GATA2-AS1

Linked Data

• dbSNP Id: rs1190074999
• gnomAD v2: 3-128211788-G-GTAGA
• gnomAD v3: 3-128492945-G-GTAGA
• gnomAD v4: 3-128492945-G-GTAGA
• MyVariant Identifiers: chr3:g.128211788_128211789insTAGA (hg19) ; chr3:g.128492945_128492946insTAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128492946_128492949dup , CM000665.2:g.128492946_128492949dup	GRCh38
NC_000003.11:g.128211789_128211792dup , CM000665.1:g.128211789_128211792dup	GRCh37
NC_000003.10:g.129694479_129694482dup	NCBI36
NG_029334.1:g.5239_5242dup , LRG_295:g.5239_5242dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696466.1:c.-244_-241dup (GATA2)	ENSP00000512647.1:n.-244_-241dup
ENST00000696654.1:c.-649_-646dup (GATA2)	ENSP00000512783.1:n.-649_-646dup
ENST00000696655.1:n.238_241dup (GATA2)
ENST00000341105.7:c.-96_-93dup (GATA2) MANE Select	ENSP00000345681.2:n.-96_-93dup
ENST00000341105.6:c.-96_-93dup (GATA2)	ENSP00000345681.2:n.-96_-93dup
ENST00000498200.1:c.-315_-312dup (GATA2)	ENSP00000419532.1:n.-315_-312dup
NM_032638.4:c.-96_-93dup , LRG_295t2:c.-96_-93dup (GATA2)	NP_116027.2:n.-96_-93dup
NR_125398.1:n.759+2877_759+2880dup (GATA2-AS1)
NM_032638.5:c.-96_-93dup (GATA2) MANE Select	NP_116027.2:n.-96_-93dup