Canonical Allele Identifier: CA2667540265

Gene: GATA2

Linked Data

• gnomAD v4: 3-128481050-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481055del , CM000665.2:g.128481055del	GRCh38
NC_000003.11:g.128199898del , CM000665.1:g.128199898del	GRCh37
NC_000003.10:g.129682588del	NCBI36
NG_029334.1:g.17137del , LRG_295:g.17137del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1411del MANE Plus Clinical	ENSP00000417074.1:p.His471ThrfsTer6
ENST00000696466.1:c.1693del	ENSP00000512647.1:p.His565ThrfsTer6
ENST00000696672.1:c.386del	ENSP00000512796.1:p.Pro129HisfsTer11
ENST00000341105.7:c.1411del MANE Select	ENSP00000345681.2:p.His471ThrfsTer6
ENST00000341105.6:c.1411del	ENSP00000345681.2:p.His471ThrfsTer6
ENST00000430265.6:c.1369del	ENSP00000400259.2:p.His457ThrfsTer6
ENST00000487848.5:c.1411del	ENSP00000417074.1:p.His471ThrfsTer6
ENST00000489987.1:n.528del
NM_001145661.1:c.1411del , LRG_295t1:c.1411del	NP_001139133.1:p.His471ThrfsTer6
NM_001145662.1:c.1369del	NP_001139134.1:p.His457ThrfsTer6
NM_032638.4:c.1411del , LRG_295t2:c.1411del	NP_116027.2:p.His471ThrfsTer6
NM_001145661.2:c.1411del MANE Plus Clinical	NP_001139133.1:p.His471ThrfsTer6
NM_032638.5:c.1411del MANE Select	NP_116027.2:p.His471ThrfsTer6