Canonical Allele Identifier: CA1400713335
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128480719_128480720delinsTG , CM000665.2:g.128480719_128480720delinsTG GRCh38
NC_000003.11:g.128199562_128199563delinsTG , CM000665.1:g.128199562_128199563delinsTG GRCh37
NC_000003.10:g.129682252_129682253delinsTG NCBI36
NG_029334.1:g.17468_17469delinsCA , LRG_295:g.17468_17469delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000487848.6:c.*299_*300delinsCA MANE Plus Clinical ENSP00000417074.1:n.*299_*300delinsCA
ENST00000696466.1:c.*299_*300delinsCA ENSP00000512647.1:n.*299_*300delinsCA
ENST00000696672.1:c.717_718delinsCA ENSP00000512796.1:n.717_718delinsCA
ENST00000341105.7:c.*299_*300delinsCA MANE Select ENSP00000345681.2:n.*299_*300delinsCA
ENST00000341105.6:c.*299_*300delinsCA ENSP00000345681.2:n.*299_*300delinsCA
ENST00000430265.6:c.*299_*300delinsCA ENSP00000400259.2:n.*299_*300delinsCA
ENST00000489987.1:n.859_860delinsCA
NM_001145661.1:c.*299_*300delinsCA , LRG_295t1:c.*299_*300delinsCA NP_001139133.1:n.*299_*300delinsCA
NM_001145662.1:c.*299_*300delinsCA NP_001139134.1:n.*299_*300delinsCA
NM_032638.4:c.*299_*300delinsCA , LRG_295t2:c.*299_*300delinsCA NP_116027.2:n.*299_*300delinsCA
NM_001145661.2:c.*299_*300delinsCA MANE Plus Clinical NP_001139133.1:n.*299_*300delinsCA
NM_032638.5:c.*299_*300delinsCA MANE Select NP_116027.2:n.*299_*300delinsCA