Canonical Allele Identifier: CA208292
Gene: GATA2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 211061
ClinVar RCV Id: RCV000194241
dbSNP Id: rs797045591

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000341105.6:c.1054T>C ENSP00000345681.2:p.Cys352Arg
ENST00000430265.6:c.1018-6T>C ENSP00000400259.2:p.=
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 VV NP_001139134.1:p.=
NM_032638.4:c.1054T>C , LRG_295t2:c.1054T>C NP_116027.2:p.Cys352Arg