Canonical Allele Identifier: CA546099359
Gene: GATA2 HGNC NCBI
GATA2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1338627587
gnomAD v2: 3-128211372-C-T
gnomAD v3: 3-128492529-C-T
gnomAD v4: 3-128492529-C-T
MyVariant Identifiers: chr3:g.128211372C>T (hg19) chr3:g.128492529C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128492529C>T , CM000665.2:g.128492529C>T GRCh38
NC_000003.11:g.128211372C>T , CM000665.1:g.128211372C>T GRCh37
NC_000003.10:g.129694062C>T NCBI36
NG_029334.1:g.5659G>A , LRG_295:g.5659G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696466.1:c.-193-307G>A (GATA2) ENSP00000512647.1:n.-193-307G>A
ENST00000696654.1:c.-598-307G>A (GATA2) ENSP00000512783.1:n.-598-307G>A
ENST00000696655.1:n.288+370G>A (GATA2)
ENST00000341105.7:c.-46+370G>A (GATA2) MANE Select ENSP00000345681.2:n.-46+370G>A
ENST00000341105.6:c.-46+370G>A (GATA2) ENSP00000345681.2:n.-46+370G>A
ENST00000498200.1:c.-264-307G>A (GATA2) ENSP00000419532.1:n.-264-307G>A
NM_032638.4:c.-46+370G>A , LRG_295t2:c.-46+370G>A (GATA2) NP_116027.2:n.-46+370G>A
NR_125398.1:n.759+2460C>T (GATA2-AS1)
NM_032638.5:c.-46+370G>A (GATA2) MANE Select NP_116027.2:n.-46+370G>A
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