Canonical Allele Identifier: CA358451
Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 29712
ClinVar RCV Id: RCV000022564 RCV001541965
MyVariant Identifiers: chr3:g.128204043_128206074del (hg19) chr3:g.128485200_128487231del (hg38)
PubMed: PMID:20040766 PMID:21670465
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128485200_128487231del , CM000665.2:g.128485200_128487231del GRCh38
NC_000003.11:g.128204043_128206074del , CM000665.1:g.128204043_128206074del GRCh37
NC_000003.10:g.129686733_129688764del NCBI36
NG_029334.1:g.10957_12988del , LRG_295:g.10957_12988del

Transcript Alleles

HGVS Amino-acid change
ENST00000487848.6:c.-45-155_871+527del
ENST00000696466.1:c.238-155_1153+527del
ENST00000341105.7:c.-45-155_871+527del
ENST00000341105.6:c.-45-155_871+527del
ENST00000430265.6:c.-45-155_871+527del
ENST00000487848.5:c.-45-155_871+527del
NM_001145661.1:c.-45-155_871+527del , LRG_295t1:c.-45-155_871+527del
NM_001145662.1:c.-45-155_871+527del
NM_032638.4:c.-45-155_871+527del , LRG_295t2:c.-45-155_871+527del
NM_001145661.2:c.-45-155_871+527del
NM_032638.5:c.-45-155_871+527del
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