Canonical Allele Identifier: CA208292
Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 211061
dbSNP Id: rs797045591

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481908A>G , CM000665.2:g.128481908A>G GRCh38
NC_000003.11:g.128200751A>G , CM000665.1:g.128200751A>G GRCh37
NC_000003.10:g.129683441A>G NCBI36
NG_029334.1:g.16280T>C , LRG_295:g.16280T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1054T>C MANE Plus Clinical ENSP00000417074.1:p.Cys352Arg
ENST00000696466.1:c.1336T>C ENSP00000512647.1:p.Cys446Arg
ENST00000696672.1:c.37T>C ENSP00000512796.1:p.Cys13Arg
ENST00000341105.7:c.1054T>C MANE Select ENSP00000345681.2:p.Cys352Arg
ENST00000341105.6:c.1054T>C ENSP00000345681.2:p.Cys352Arg
ENST00000430265.6:c.1018-6T>C ENSP00000400259.2:n.1018-6T>C
ENST00000487848.5:c.1054T>C ENSP00000417074.1:p.Cys352Arg
ENST00000489987.1:n.171T>C
NM_001145661.1:c.1054T>C , LRG_295t1:c.1054T>C NP_001139133.1:p.Cys352Arg
NM_001145662.1:c.1018-6T>C NP_001139134.1:n.1018-6T>C
NM_032638.4:c.1054T>C , LRG_295t2:c.1054T>C NP_116027.2:p.Cys352Arg
NM_001145661.2:c.1054T>C MANE Plus Clinical NP_001139133.1:p.Cys352Arg
NM_032638.5:c.1054T>C MANE Select NP_116027.2:p.Cys352Arg