Canonical Allele Identifier: CA1400719396
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128486107G= , CM000665.2:g.128486107G= GRCh38
NC_000003.11:g.128204950G= , CM000665.1:g.128204950G= GRCh37
NC_000003.10:g.129687640G= NCBI36
NG_029334.1:g.12081C= , LRG_295:g.12081C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.491C= MANE Plus Clinical ENSP00000417074.1:p.Ala164=
ENST00000696466.1:c.773C= ENSP00000512647.1:p.Ala258=
ENST00000341105.7:c.491C= MANE Select ENSP00000345681.2:p.Ala164=
ENST00000341105.6:c.491C= ENSP00000345681.2:p.Ala164=
ENST00000430265.6:c.491C= ENSP00000400259.2:p.Ala164=
ENST00000487848.5:c.491C= ENSP00000417074.1:p.Ala164=
NM_001145661.1:c.491C= , LRG_295t1:c.491C= NP_001139133.1:p.Ala164=
NM_001145662.1:c.491C= NP_001139134.1:p.Ala164=
NM_032638.4:c.491C= , LRG_295t2:c.491C= NP_116027.2:p.Ala164=
NM_001145661.2:c.491C= MANE Plus Clinical NP_001139133.1:p.Ala164=
NM_032638.5:c.491C= MANE Select NP_116027.2:p.Ala164=