Canonical Allele Identifier: CA354413668
Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1058258
ClinVar RCV Id: RCV001367369
dbSNP Id: rs2107668761

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481922G>A , CM000665.2:g.128481922G>A GRCh38
NC_000003.11:g.128200765G>A , CM000665.1:g.128200765G>A GRCh37
NC_000003.10:g.129683455G>A NCBI36
NG_029334.1:g.16266C>T , LRG_295:g.16266C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1040C>T MANE Plus Clinical ENSP00000417074.1:p.Thr347Ile
ENST00000696466.1:c.1322C>T ENSP00000512647.1:p.Thr441Ile
ENST00000696672.1:c.23C>T ENSP00000512796.1:p.Thr8Ile
ENST00000341105.7:c.1040C>T MANE Select ENSP00000345681.2:p.Thr347Ile
ENST00000341105.6:c.1040C>T ENSP00000345681.2:p.Thr347Ile
ENST00000430265.6:c.1018-20C>T ENSP00000400259.2:n.1018-20C>T
ENST00000487848.5:c.1040C>T ENSP00000417074.1:p.Thr347Ile
ENST00000489987.1:n.157C>T
NM_001145661.1:c.1040C>T , LRG_295t1:c.1040C>T NP_001139133.1:p.Thr347Ile
NM_001145662.1:c.1018-20C>T NP_001139134.1:n.1018-20C>T
NM_032638.4:c.1040C>T , LRG_295t2:c.1040C>T NP_116027.2:p.Thr347Ile
NM_001145661.2:c.1040C>T MANE Plus Clinical NP_001139133.1:p.Thr347Ile
NM_032638.5:c.1040C>T MANE Select NP_116027.2:p.Thr347Ile