Canonical Allele Identifier: CA2667541513
Gene: GATA2 HGNC NCBI
GATA2-AS1 HGNC NCBI

Linked Data

gnomAD v4: 3-128492905-AGGCGCGGTGGGCGGCGCCCCCGGGCGGACGGGGCCTGGAGTAGAGCTGGGAGCAGGGCGAGGTGCGCGGCAGGCGGGCTCGCGGGACCTG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128492913_128493002del , CM000665.2:g.128492913_128493002del GRCh38
NC_000003.11:g.128211756_128211845del , CM000665.1:g.128211756_128211845del GRCh37
NC_000003.10:g.129694446_129694535del NCBI36
NG_029334.1:g.5193_5282del , LRG_295:g.5193_5282del

Transcript Alleles

HGVS Amino-acid change
ENST00000696466.1:c.-290_-201del (GATA2) ENSP00000512647.1:n.-290_-201del
ENST00000696654.1:c.-695_-606del (GATA2) ENSP00000512783.1:n.-695_-606del
ENST00000696655.1:n.192_281del (GATA2)
ENST00000341105.7:c.-142_-53del (GATA2) MANE Select ENSP00000345681.2:n.-142_-53del
ENST00000341105.6:c.-142_-53del (GATA2) ENSP00000345681.2:n.-142_-53del
ENST00000498200.1:c.-361_-272del (GATA2) ENSP00000419532.1:n.-361_-272del
NM_032638.4:c.-142_-53del , LRG_295t2:c.-142_-53del (GATA2) NP_116027.2:n.-142_-53del
NR_125398.1:n.759+2844_759+2933del (GATA2-AS1)
NM_032638.5:c.-142_-53del (GATA2) MANE Select NP_116027.2:n.-142_-53del
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