Canonical Allele Identifier: CA1400717660
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128484057_128484060delinsGGGA , CM000665.2:g.128484057_128484060delinsGGGA GRCh38
NC_000003.11:g.128202900_128202903delinsGGGA , CM000665.1:g.128202900_128202903delinsGGGA GRCh37
NC_000003.10:g.129685590_129685593delinsGGGA NCBI36
NG_029334.1:g.14128_14131delinsTCCC , LRG_295:g.14128_14131delinsTCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.872-55_872-52delinsTCCC MANE Plus Clinical ENSP00000417074.1:n.872-55_872-52delinsTCCC
ENST00000696466.1:c.1154-55_1154-52delinsTCCC ENSP00000512647.1:n.1154-55_1154-52delinsTCCC
ENST00000341105.7:c.872-55_872-52delinsTCCC MANE Select ENSP00000345681.2:n.872-55_872-52delinsTCCC
ENST00000341105.6:c.872-55_872-52delinsTCCC ENSP00000345681.2:n.872-55_872-52delinsTCCC
ENST00000430265.6:c.872-55_872-52delinsTCCC ENSP00000400259.2:n.872-55_872-52delinsTCCC
ENST00000487848.5:c.872-55_872-52delinsTCCC ENSP00000417074.1:n.872-55_872-52delinsTCCC
NM_001145661.1:c.872-55_872-52delinsTCCC , LRG_295t1:c.872-55_872-52delinsTCCC NP_001139133.1:n.872-55_872-52delinsTCCC
NM_001145662.1:c.872-55_872-52delinsTCCC NP_001139134.1:n.872-55_872-52delinsTCCC
NM_032638.4:c.872-55_872-52delinsTCCC , LRG_295t2:c.872-55_872-52delinsTCCC NP_116027.2:n.872-55_872-52delinsTCCC
NM_001145661.2:c.872-55_872-52delinsTCCC MANE Plus Clinical NP_001139133.1:n.872-55_872-52delinsTCCC
NM_032638.5:c.872-55_872-52delinsTCCC MANE Select NP_116027.2:n.872-55_872-52delinsTCCC