Canonical Allele Identifier: CA1400713134
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128480524G= , CM000665.2:g.128480524G= GRCh38
NC_000003.11:g.128199367G= , CM000665.1:g.128199367G= GRCh37
NC_000003.10:g.129682057G= NCBI36
NG_029334.1:g.17664C= , LRG_295:g.17664C=

Transcript Alleles

HGVS Amino-acid change
ENST00000487848.6:c.*495C= MANE Plus Clinical ENSP00000417074.1:n.*495C=
ENST00000696466.1:c.*495C= ENSP00000512647.1:n.*495C=
ENST00000696672.1:c.913C= ENSP00000512796.1:n.913C=
ENST00000341105.7:c.*495C= MANE Select ENSP00000345681.2:n.*495C=
ENST00000341105.6:c.*495C= ENSP00000345681.2:n.*495C=
ENST00000430265.6:c.*495C= ENSP00000400259.2:n.*495C=
ENST00000489987.1:n.1055C=
NM_001145661.1:c.*495C= , LRG_295t1:c.*495C= NP_001139133.1:n.*495C=
NM_001145662.1:c.*495C= NP_001139134.1:n.*495C=
NM_032638.4:c.*495C= , LRG_295t2:c.*495C= NP_116027.2:n.*495C=
NM_001145661.2:c.*495C= MANE Plus Clinical NP_001139133.1:n.*495C=
NM_032638.5:c.*495C= MANE Select NP_116027.2:n.*495C=