Canonical Allele Identifier: CA2667541545
Gene: GATA2 HGNC NCBI
GATA2-AS1 HGNC NCBI

Linked Data

gnomAD v4: 3-128492925-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128492925C>A , CM000665.2:g.128492925C>A GRCh38
NC_000003.11:g.128211768C>A , CM000665.1:g.128211768C>A GRCh37
NC_000003.10:g.129694458C>A NCBI36
NG_029334.1:g.5263G>T , LRG_295:g.5263G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696466.1:c.-220G>T (GATA2) ENSP00000512647.1:n.-220G>T
ENST00000696654.1:c.-625G>T (GATA2) ENSP00000512783.1:n.-625G>T
ENST00000696655.1:n.262G>T (GATA2)
ENST00000341105.7:c.-72G>T (GATA2) MANE Select ENSP00000345681.2:n.-72G>T
ENST00000341105.6:c.-72G>T (GATA2) ENSP00000345681.2:n.-72G>T
ENST00000498200.1:c.-291G>T (GATA2) ENSP00000419532.1:n.-291G>T
NM_032638.4:c.-72G>T , LRG_295t2:c.-72G>T (GATA2) NP_116027.2:n.-72G>T
NR_125398.1:n.759+2856C>A (GATA2-AS1)
NM_032638.5:c.-72G>T (GATA2) MANE Select NP_116027.2:n.-72G>T
Search 100 bp 5'
Search 100 bp 3'