Canonical Allele Identifier: CA2580068704
Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2121725
ClinVar RCV Id: RCV003049305

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481765_128481836del , CM000665.2:g.128481765_128481836del GRCh38
NC_000003.11:g.128200608_128200679del , CM000665.1:g.128200608_128200679del GRCh37
NC_000003.10:g.129683298_129683369del NCBI36
NG_029334.1:g.16352_16423del , LRG_295:g.16352_16423del

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1126_1143+54del
ENST00000696466.1:c.1408_1425+54del
ENST00000696672.1:c.109_126+54del
ENST00000341105.7:c.1126_1143+54del
ENST00000341105.6:c.1126_1143+54del
ENST00000430265.6:c.1084_1101+54del
ENST00000487848.5:c.1126_1143+54del
ENST00000489987.1:n.243_260+54del
NM_001145661.1:c.1126_1143+54del , LRG_295t1:c.1126_1143+54del
NM_001145662.1:c.1084_1101+54del
NM_032638.4:c.1126_1143+54del , LRG_295t2:c.1126_1143+54del
NM_001145661.2:c.1126_1143+54del
NM_032638.5:c.1126_1143+54del