Canonical Allele Identifier: CA546099431
Gene: GATA2 HGNC NCBI
GATA2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1488502930
gnomAD v2: 3-128211780-G-A
gnomAD v3: 3-128492937-G-A
gnomAD v4: 3-128492937-G-A
MyVariant Identifiers: chr3:g.128211780G>A (hg19) chr3:g.128492937G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128492937G>A , CM000665.2:g.128492937G>A GRCh38
NC_000003.11:g.128211780G>A , CM000665.1:g.128211780G>A GRCh37
NC_000003.10:g.129694470G>A NCBI36
NG_029334.1:g.5251C>T , LRG_295:g.5251C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696466.1:c.-232C>T (GATA2) ENSP00000512647.1:n.-232C>T
ENST00000696654.1:c.-637C>T (GATA2) ENSP00000512783.1:n.-637C>T
ENST00000696655.1:n.250C>T (GATA2)
ENST00000341105.7:c.-84C>T (GATA2) MANE Select ENSP00000345681.2:n.-84C>T
ENST00000341105.6:c.-84C>T (GATA2) ENSP00000345681.2:n.-84C>T
ENST00000498200.1:c.-303C>T (GATA2) ENSP00000419532.1:n.-303C>T
NM_032638.4:c.-84C>T , LRG_295t2:c.-84C>T (GATA2) NP_116027.2:n.-84C>T
NR_125398.1:n.759+2868G>A (GATA2-AS1)
NM_032638.5:c.-84C>T (GATA2) MANE Select NP_116027.2:n.-84C>T
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