Canonical Allele Identifier: CA546099371
Gene: GATA2 HGNC NCBI
GATA2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1421458100
gnomAD v2: 3-128211452-G-T
gnomAD v3: 3-128492609-G-T
gnomAD v4: 3-128492609-G-T
MyVariant Identifiers: chr3:g.128211452G>T (hg19) chr3:g.128492609G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128492609G>T , CM000665.2:g.128492609G>T GRCh38
NC_000003.11:g.128211452G>T , CM000665.1:g.128211452G>T GRCh37
NC_000003.10:g.129694142G>T NCBI36
NG_029334.1:g.5579C>A , LRG_295:g.5579C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696466.1:c.-194+290C>A (GATA2) ENSP00000512647.1:n.-194+290C>A
ENST00000696654.1:c.-599+290C>A (GATA2) ENSP00000512783.1:n.-599+290C>A
ENST00000696655.1:n.288+290C>A (GATA2)
ENST00000341105.7:c.-46+290C>A (GATA2) MANE Select ENSP00000345681.2:n.-46+290C>A
ENST00000341105.6:c.-46+290C>A (GATA2) ENSP00000345681.2:n.-46+290C>A
ENST00000498200.1:c.-265+290C>A (GATA2) ENSP00000419532.1:n.-265+290C>A
NM_032638.4:c.-46+290C>A , LRG_295t2:c.-46+290C>A (GATA2) NP_116027.2:n.-46+290C>A
NR_125398.1:n.759+2540G>T (GATA2-AS1)
NM_032638.5:c.-46+290C>A (GATA2) MANE Select NP_116027.2:n.-46+290C>A
Search 100 bp 5'
Search 100 bp 3'