Canonical Allele Identifier: CA83375146
Gene: GATA2 HGNC NCBI
GATA2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1336878
ClinVar RCV Id: RCV001819364
dbSNP Id: rs991141166
gnomAD v2: 3-128211795-T-C
gnomAD v3: 3-128492952-T-C
gnomAD v4: 3-128492952-T-C
MyVariant Identifiers: chr3:g.128211795T>C (hg19) chr3:g.128492952T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128492952T>C , CM000665.2:g.128492952T>C GRCh38
NC_000003.11:g.128211795T>C , CM000665.1:g.128211795T>C GRCh37
NC_000003.10:g.129694485T>C NCBI36
NG_029334.1:g.5236A>G , LRG_295:g.5236A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696466.1:c.-247A>G (GATA2) ENSP00000512647.1:n.-247A>G
ENST00000696654.1:c.-652A>G (GATA2) ENSP00000512783.1:n.-652A>G
ENST00000696655.1:n.235A>G (GATA2)
ENST00000341105.7:c.-99A>G (GATA2) MANE Select ENSP00000345681.2:n.-99A>G
ENST00000341105.6:c.-99A>G (GATA2) ENSP00000345681.2:n.-99A>G
ENST00000498200.1:c.-318A>G (GATA2) ENSP00000419532.1:n.-318A>G
NM_032638.4:c.-99A>G , LRG_295t2:c.-99A>G (GATA2) NP_116027.2:n.-99A>G
NR_125398.1:n.759+2883T>C (GATA2-AS1)
NM_032638.5:c.-99A>G (GATA2) MANE Select NP_116027.2:n.-99A>G
Search 100 bp 5'
Search 100 bp 3'