Canonical Allele Identifier: CA2573052076
Gene: GATA2 HGNC NCBI
GATA2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1337059
ClinVar RCV Id: RCV001819545
dbSNP Id: rs2107678029
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128492973G>C , CM000665.2:g.128492973G>C GRCh38
NC_000003.11:g.128211816G>C , CM000665.1:g.128211816G>C GRCh37
NC_000003.10:g.129694506G>C NCBI36
NG_029334.1:g.5215C>G , LRG_295:g.5215C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696466.1:c.-268C>G (GATA2) ENSP00000512647.1:n.-268C>G
ENST00000696654.1:c.-673C>G (GATA2) ENSP00000512783.1:n.-673C>G
ENST00000696655.1:n.214C>G (GATA2)
ENST00000341105.7:c.-120C>G (GATA2) MANE Select ENSP00000345681.2:n.-120C>G
ENST00000341105.6:c.-120C>G (GATA2) ENSP00000345681.2:n.-120C>G
ENST00000498200.1:c.-339C>G (GATA2) ENSP00000419532.1:n.-339C>G
NM_032638.4:c.-120C>G , LRG_295t2:c.-120C>G (GATA2) NP_116027.2:n.-120C>G
NR_125398.1:n.759+2904G>C (GATA2-AS1)
NM_032638.5:c.-120C>G (GATA2) MANE Select NP_116027.2:n.-120C>G
Search 100 bp 5'
Search 100 bp 3'