Canonical Allele Identifier: CA83376238
Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2937540
ClinVar RCV Id: RCV003794170
dbSNP Id: rs1009940359

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481137T>G , CM000665.2:g.128481137T>G GRCh38
NC_000003.11:g.128199980T>G , CM000665.1:g.128199980T>G GRCh37
NC_000003.10:g.129682670T>G NCBI36
NG_029334.1:g.17051A>C , LRG_295:g.17051A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1325A>C MANE Plus Clinical ENSP00000417074.1:p.His442Pro
ENST00000696466.1:c.1607A>C ENSP00000512647.1:p.His536Pro
ENST00000696672.1:c.300A>C ENSP00000512796.1:p.Pro100=
ENST00000341105.7:c.1325A>C MANE Select ENSP00000345681.2:p.His442Pro
ENST00000341105.6:c.1325A>C ENSP00000345681.2:p.His442Pro
ENST00000430265.6:c.1283A>C ENSP00000400259.2:p.His428Pro
ENST00000487848.5:c.1325A>C ENSP00000417074.1:p.His442Pro
ENST00000489987.1:n.442A>C
NM_001145661.1:c.1325A>C , LRG_295t1:c.1325A>C NP_001139133.1:p.His442Pro
NM_001145662.1:c.1283A>C NP_001139134.1:p.His428Pro
NM_032638.4:c.1325A>C , LRG_295t2:c.1325A>C NP_116027.2:p.His442Pro
NM_001145661.2:c.1325A>C MANE Plus Clinical NP_001139133.1:p.His442Pro
NM_032638.5:c.1325A>C MANE Select NP_116027.2:p.His442Pro