Canonical Allele Identifier: CA435763977
Gene: GATA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.128204727G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128485884G>T , CM000665.2:g.128485884G>T GRCh38
NC_000003.11:g.128204727G>T , CM000665.1:g.128204727G>T GRCh37
NC_000003.10:g.129687417G>T NCBI36
NG_029334.1:g.12304C>A , LRG_295:g.12304C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.714C>A MANE Plus Clinical ENSP00000417074.1:p.Thr238=
ENST00000696466.1:c.996C>A ENSP00000512647.1:p.Thr332=
ENST00000341105.7:c.714C>A MANE Select ENSP00000345681.2:p.Thr238=
ENST00000341105.6:c.714C>A ENSP00000345681.2:p.Thr238=
ENST00000430265.6:c.714C>A ENSP00000400259.2:p.Thr238=
ENST00000487848.5:c.714C>A ENSP00000417074.1:p.Thr238=
NM_001145661.1:c.714C>A , LRG_295t1:c.714C>A NP_001139133.1:p.Thr238=
NM_001145662.1:c.714C>A NP_001139134.1:p.Thr238=
NM_032638.4:c.714C>A , LRG_295t2:c.714C>A NP_116027.2:p.Thr238=
NM_001145661.2:c.714C>A MANE Plus Clinical NP_001139133.1:p.Thr238=
NM_032638.5:c.714C>A MANE Select NP_116027.2:p.Thr238=