Canonical Allele Identifier: CA354413620
Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1184241
ClinVar RCV Id: RCV001542225
dbSNP Id: rs2107668727

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481902T>G , CM000665.2:g.128481902T>G GRCh38
NC_000003.11:g.128200745T>G , CM000665.1:g.128200745T>G GRCh37
NC_000003.10:g.129683435T>G NCBI36
NG_029334.1:g.16286A>C , LRG_295:g.16286A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1060A>C MANE Plus Clinical ENSP00000417074.1:p.Thr354Pro
ENST00000696466.1:c.1342A>C ENSP00000512647.1:p.Thr448Pro
ENST00000696672.1:c.43A>C ENSP00000512796.1:p.Thr15Pro
ENST00000341105.7:c.1060A>C MANE Select ENSP00000345681.2:p.Thr354Pro
ENST00000341105.6:c.1060A>C ENSP00000345681.2:p.Thr354Pro
ENST00000430265.6:c.1018A>C ENSP00000400259.2:p.Thr340Pro
ENST00000487848.5:c.1060A>C ENSP00000417074.1:p.Thr354Pro
ENST00000489987.1:n.177A>C
NM_001145661.1:c.1060A>C , LRG_295t1:c.1060A>C NP_001139133.1:p.Thr354Pro
NM_001145662.1:c.1018A>C NP_001139134.1:p.Thr340Pro
NM_032638.4:c.1060A>C , LRG_295t2:c.1060A>C NP_116027.2:p.Thr354Pro
NM_001145661.2:c.1060A>C MANE Plus Clinical NP_001139133.1:p.Thr354Pro
NM_032638.5:c.1060A>C MANE Select NP_116027.2:p.Thr354Pro