Canonical Allele Identifier: CA898657593
Gene: GATA2 HGNC NCBI
GATA2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 903486
ClinVar RCV Id: RCV001150852
dbSNP Id: rs1283698608
gnomAD v3: 3-128492967-G-A
gnomAD v4: 3-128492967-G-A
MyVariant Identifiers: chr3:g.128211810G>A (hg19) chr3:g.128492967G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128492967G>A , CM000665.2:g.128492967G>A GRCh38
NC_000003.11:g.128211810G>A , CM000665.1:g.128211810G>A GRCh37
NC_000003.10:g.129694500G>A NCBI36
NG_029334.1:g.5221C>T , LRG_295:g.5221C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696466.1:c.-262C>T (GATA2) ENSP00000512647.1:n.-262C>T
ENST00000696654.1:c.-667C>T (GATA2) ENSP00000512783.1:n.-667C>T
ENST00000696655.1:n.220C>T (GATA2)
ENST00000341105.7:c.-114C>T (GATA2) MANE Select ENSP00000345681.2:n.-114C>T
ENST00000341105.6:c.-114C>T (GATA2) ENSP00000345681.2:n.-114C>T
ENST00000498200.1:c.-333C>T (GATA2) ENSP00000419532.1:n.-333C>T
NM_032638.4:c.-114C>T , LRG_295t2:c.-114C>T (GATA2) NP_116027.2:n.-114C>T
NR_125398.1:n.759+2898G>A (GATA2-AS1)
NM_032638.5:c.-114C>T (GATA2) MANE Select NP_116027.2:n.-114C>T
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