Canonical Allele Identifier: CA358689
Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 29713
ClinVar RCV Id: RCV000022565 RCV001542117
dbSNP Id: rs869320734
MyVariant Identifiers: chr3:g.128200710_128200721del (hg19) chr3:g.128481867_128481878del (hg38)
PubMed: PMID:20040766 PMID:21670465
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481868_128481879del , CM000665.2:g.128481868_128481879del GRCh38
NC_000003.11:g.128200711_128200722del , CM000665.1:g.128200711_128200722del GRCh37
NC_000003.10:g.129683401_129683412del NCBI36
NG_029334.1:g.16310_16321del , LRG_295:g.16310_16321del

Transcript Alleles

HGVS Amino-acid change
ENST00000487848.6:c.1084_1095del MANE Plus Clinical ENSP00000417074.1:p.Arg362_Asn365del
ENST00000696466.1:c.1366_1377del ENSP00000512647.1:p.Arg456_Asn459del
ENST00000696672.1:c.67_78del ENSP00000512796.1:p.Arg23_Asn26del
ENST00000341105.7:c.1084_1095del MANE Select ENSP00000345681.2:p.Arg362_Asn365del
ENST00000341105.6:c.1084_1095del ENSP00000345681.2:p.Arg362_Asn365del
ENST00000430265.6:c.1042_1053del ENSP00000400259.2:p.Arg348_Asn351del
ENST00000487848.5:c.1084_1095del ENSP00000417074.1:p.Arg362_Asn365del
ENST00000489987.1:n.201_212del
NM_001145661.1:c.1084_1095del , LRG_295t1:c.1084_1095del NP_001139133.1:p.Arg362_Asn365del
NM_001145662.1:c.1042_1053del NP_001139134.1:p.Arg348_Asn351del
NM_032638.4:c.1084_1095del , LRG_295t2:c.1084_1095del NP_116027.2:p.Arg362_Asn365del
NM_001145661.2:c.1084_1095del MANE Plus Clinical NP_001139133.1:p.Arg362_Asn365del
NM_032638.5:c.1084_1095del MANE Select NP_116027.2:p.Arg362_Asn365del
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