Canonical Allele Identifier: CA2667540266

Gene: GATA2

Linked Data

• gnomAD v4: 3-128481149-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481151dup , CM000665.2:g.128481151dup	GRCh38
NC_000003.11:g.128199994dup , CM000665.1:g.128199994dup	GRCh37
NC_000003.10:g.129682684dup	NCBI36
NG_029334.1:g.17038dup , LRG_295:g.17038dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1312dup MANE Plus Clinical	ENSP00000417074.1:p.Ala438GlyfsTer?
ENST00000696466.1:c.1594dup	ENSP00000512647.1:p.Ala532GlyfsTer?
ENST00000696672.1:c.287dup	ENSP00000512796.1:p.Thr97HisfsTer?
ENST00000341105.7:c.1312dup MANE Select	ENSP00000345681.2:p.Ala438GlyfsTer?
ENST00000341105.6:c.1312dup	ENSP00000345681.2:p.Ala438GlyfsTer?
ENST00000430265.6:c.1270dup	ENSP00000400259.2:p.Ala424GlyfsTer?
ENST00000487848.5:c.1312dup	ENSP00000417074.1:p.Ala438GlyfsTer?
ENST00000489987.1:n.429dup
NM_001145661.1:c.1312dup , LRG_295t1:c.1312dup	NP_001139133.1:p.Ala438GlyfsTer?
NM_001145662.1:c.1270dup	NP_001139134.1:p.Ala424GlyfsTer?
NM_032638.4:c.1312dup , LRG_295t2:c.1312dup	NP_116027.2:p.Ala438GlyfsTer?
NM_001145661.2:c.1312dup MANE Plus Clinical	NP_001139133.1:p.Ala438GlyfsTer?
NM_032638.5:c.1312dup MANE Select	NP_116027.2:p.Ala438GlyfsTer?