Canonical Allele Identifier: CA898647503

Gene: GATA2

Linked Data

• dbSNP Id: rs1367725528
• gnomAD v3: 3-128481770-G-GC
• gnomAD v4: 3-128481770-G-GC
• MyVariant Identifiers: chr3:g.128200613_128200614insC (hg19) ; chr3:g.128481770_128481771insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481771dup , CM000665.2:g.128481771dup	GRCh38
NC_000003.11:g.128200614dup , CM000665.1:g.128200614dup	GRCh37
NC_000003.10:g.129683304dup	NCBI36
NG_029334.1:g.16417dup , LRG_295:g.16417dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1143+48dup MANE Plus Clinical	ENSP00000417074.1:n.1143+48dup
ENST00000696466.1:c.1425+48dup	ENSP00000512647.1:n.1425+48dup
ENST00000696672.1:c.126+48dup	ENSP00000512796.1:n.126+48dup
ENST00000341105.7:c.1143+48dup MANE Select	ENSP00000345681.2:n.1143+48dup
ENST00000341105.6:c.1143+48dup	ENSP00000345681.2:n.1143+48dup
ENST00000430265.6:c.1101+48dup	ENSP00000400259.2:n.1101+48dup
ENST00000487848.5:c.1143+48dup	ENSP00000417074.1:n.1143+48dup
ENST00000489987.1:n.260+48dup
NM_001145661.1:c.1143+48dup , LRG_295t1:c.1143+48dup	NP_001139133.1:n.1143+48dup
NM_001145662.1:c.1101+48dup	NP_001139134.1:n.1101+48dup
NM_032638.4:c.1143+48dup , LRG_295t2:c.1143+48dup	NP_116027.2:n.1143+48dup
NM_001145661.2:c.1143+48dup MANE Plus Clinical	NP_001139133.1:n.1143+48dup
NM_032638.5:c.1143+48dup MANE Select	NP_116027.2:n.1143+48dup