Canonical Allele Identifier: CA1400713452
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128480831_128480832delinsAG , CM000665.2:g.128480831_128480832delinsAG GRCh38
NC_000003.11:g.128199674_128199675delinsAG , CM000665.1:g.128199674_128199675delinsAG GRCh37
NC_000003.10:g.129682364_129682365delinsAG NCBI36
NG_029334.1:g.17356_17357delinsCT , LRG_295:g.17356_17357delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.*187_*188delinsCT MANE Plus Clinical ENSP00000417074.1:n.*187_*188delinsCT
ENST00000696466.1:c.*187_*188delinsCT ENSP00000512647.1:n.*187_*188delinsCT
ENST00000696672.1:c.605_606delinsCT ENSP00000512796.1:n.605_606delinsCT
ENST00000341105.7:c.*187_*188delinsCT MANE Select ENSP00000345681.2:n.*187_*188delinsCT
ENST00000341105.6:c.*187_*188delinsCT ENSP00000345681.2:n.*187_*188delinsCT
ENST00000430265.6:c.*187_*188delinsCT ENSP00000400259.2:n.*187_*188delinsCT
ENST00000489987.1:n.747_748delinsCT
NM_001145661.1:c.*187_*188delinsCT , LRG_295t1:c.*187_*188delinsCT NP_001139133.1:n.*187_*188delinsCT
NM_001145662.1:c.*187_*188delinsCT NP_001139134.1:n.*187_*188delinsCT
NM_032638.4:c.*187_*188delinsCT , LRG_295t2:c.*187_*188delinsCT NP_116027.2:n.*187_*188delinsCT
NM_001145661.2:c.*187_*188delinsCT MANE Plus Clinical NP_001139133.1:n.*187_*188delinsCT
NM_032638.5:c.*187_*188delinsCT MANE Select NP_116027.2:n.*187_*188delinsCT