Canonical Allele Identifier: CA1053353090
Gene: GATA2 HGNC NCBI
GATA2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs2068795814
gnomAD v3: 3-128492943-G-T
gnomAD v4: 3-128492943-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128492943G>T , CM000665.2:g.128492943G>T GRCh38
NC_000003.11:g.128211786G>T , CM000665.1:g.128211786G>T GRCh37
NC_000003.10:g.129694476G>T NCBI36
NG_029334.1:g.5245C>A , LRG_295:g.5245C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696466.1:c.-238C>A (GATA2) ENSP00000512647.1:n.-238C>A
ENST00000696654.1:c.-643C>A (GATA2) ENSP00000512783.1:n.-643C>A
ENST00000696655.1:n.244C>A (GATA2)
ENST00000341105.7:c.-90C>A (GATA2) MANE Select ENSP00000345681.2:n.-90C>A
ENST00000341105.6:c.-90C>A (GATA2) ENSP00000345681.2:n.-90C>A
ENST00000498200.1:c.-309C>A (GATA2) ENSP00000419532.1:n.-309C>A
NM_032638.4:c.-90C>A , LRG_295t2:c.-90C>A (GATA2) NP_116027.2:n.-90C>A
NR_125398.1:n.759+2874G>T (GATA2-AS1)
NM_032638.5:c.-90C>A (GATA2) MANE Select NP_116027.2:n.-90C>A
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