Canonical Allele Identifier: CA1400719451
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128486192C= , CM000665.2:g.128486192C= GRCh38
NC_000003.11:g.128205035C= , CM000665.1:g.128205035C= GRCh37
NC_000003.10:g.129687725C= NCBI36
NG_029334.1:g.11996G= , LRG_295:g.11996G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.406G= MANE Plus Clinical ENSP00000417074.1:p.Gly136=
ENST00000696466.1:c.688G= ENSP00000512647.1:p.Gly230=
ENST00000341105.7:c.406G= MANE Select ENSP00000345681.2:p.Gly136=
ENST00000341105.6:c.406G= ENSP00000345681.2:p.Gly136=
ENST00000430265.6:c.406G= ENSP00000400259.2:p.Gly136=
ENST00000487848.5:c.406G= ENSP00000417074.1:p.Gly136=
ENST00000492608.1:c.406G= ENSP00000418132.1:p.Gly136=
NM_001145661.1:c.406G= , LRG_295t1:c.406G= NP_001139133.1:p.Gly136=
NM_001145662.1:c.406G= NP_001139134.1:p.Gly136=
NM_032638.4:c.406G= , LRG_295t2:c.406G= NP_116027.2:p.Gly136=
NM_001145661.2:c.406G= MANE Plus Clinical NP_001139133.1:p.Gly136=
NM_032638.5:c.406G= MANE Select NP_116027.2:p.Gly136=