Canonical Allele Identifier: CA11420023
Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1277301
ClinVar RCV Id: RCV001690606
dbSNP Id: rs11717152

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128482170A>C , CM000665.2:g.128482170A>C GRCh38
NC_000003.11:g.128201013A>C , CM000665.1:g.128201013A>C GRCh37
NC_000003.10:g.129683703A>C NCBI36
NG_029334.1:g.16018T>G , LRG_295:g.16018T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000487848.6:c.1018-226T>G MANE Plus Clinical ENSP00000417074.1:n.1018-226T>G
ENST00000696466.1:c.1300-226T>G ENSP00000512647.1:n.1300-226T>G
ENST00000341105.7:c.1018-226T>G MANE Select ENSP00000345681.2:n.1018-226T>G
ENST00000341105.6:c.1018-226T>G ENSP00000345681.2:n.1018-226T>G
ENST00000430265.6:c.1018-268T>G ENSP00000400259.2:n.1018-268T>G
ENST00000487848.5:c.1018-226T>G ENSP00000417074.1:n.1018-226T>G
NM_001145661.1:c.1018-226T>G , LRG_295t1:c.1018-226T>G NP_001139133.1:n.1018-226T>G
NM_001145662.1:c.1018-268T>G NP_001139134.1:n.1018-268T>G
NM_032638.4:c.1018-226T>G , LRG_295t2:c.1018-226T>G NP_116027.2:n.1018-226T>G
NM_001145661.2:c.1018-226T>G MANE Plus Clinical NP_001139133.1:n.1018-226T>G
NM_032638.5:c.1018-226T>G MANE Select NP_116027.2:n.1018-226T>G