Canonical Allele Identifier: CA1400712381
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128479792C= , CM000665.2:g.128479792C= GRCh38
NC_000003.11:g.128198635C= , CM000665.1:g.128198635C= GRCh37
NC_000003.10:g.129681325C= NCBI36
NG_029334.1:g.18396G= , LRG_295:g.18396G=

Transcript Alleles

HGVS Amino-acid change
ENST00000487848.6:c.*1227G= MANE Plus Clinical ENSP00000417074.1:n.*1227G=
ENST00000696466.1:c.*1227G= ENSP00000512647.1:n.*1227G=
ENST00000696672.1:c.1645G= ENSP00000512796.1:n.1645G=
ENST00000341105.7:c.*1227G= MANE Select ENSP00000345681.2:n.*1227G=
ENST00000341105.6:c.*1227G= ENSP00000345681.2:n.*1227G=
NM_001145661.1:c.*1227G= , LRG_295t1:c.*1227G= NP_001139133.1:n.*1227G=
NM_001145662.1:c.*1227G= NP_001139134.1:n.*1227G=
NM_032638.4:c.*1227G= , LRG_295t2:c.*1227G= NP_116027.2:n.*1227G=
NM_001145661.2:c.*1227G= MANE Plus Clinical NP_001139133.1:n.*1227G=
NM_032638.5:c.*1227G= MANE Select NP_116027.2:n.*1227G=