Canonical Allele Identifier: CA1400719480
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128486258_128486261delinsTGTG , CM000665.2:g.128486258_128486261delinsTGTG GRCh38
NC_000003.11:g.128205101_128205104delinsTGTG , CM000665.1:g.128205101_128205104delinsTGTG GRCh37
NC_000003.10:g.129687791_129687794delinsTGTG NCBI36
NG_029334.1:g.11927_11930delinsCACA , LRG_295:g.11927_11930delinsCACA

Transcript Alleles

HGVS Amino-acid change
ENST00000487848.6:c.337_340delinsCACA MANE Plus Clinical ENSP00000417074.1:p.His113=
ENST00000696466.1:c.619_622delinsCACA ENSP00000512647.1:p.His207=
ENST00000341105.7:c.337_340delinsCACA MANE Select ENSP00000345681.2:p.His113=
ENST00000341105.6:c.337_340delinsCACA ENSP00000345681.2:p.His113=
ENST00000430265.6:c.337_340delinsCACA ENSP00000400259.2:p.His113=
ENST00000487848.5:c.337_340delinsCACA ENSP00000417074.1:p.His113=
ENST00000492608.1:c.337_340delinsCACA ENSP00000418132.1:p.His113=
NM_001145661.1:c.337_340delinsCACA , LRG_295t1:c.337_340delinsCACA NP_001139133.1:p.His113=
NM_001145662.1:c.337_340delinsCACA NP_001139134.1:p.His113=
NM_032638.4:c.337_340delinsCACA , LRG_295t2:c.337_340delinsCACA NP_116027.2:p.His113=
NM_001145661.2:c.337_340delinsCACA MANE Plus Clinical NP_001139133.1:p.His113=
NM_032638.5:c.337_340delinsCACA MANE Select NP_116027.2:p.His113=