Canonical Allele Identifier: CA1400714409
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481313G= , CM000665.2:g.128481313G= GRCh38
NC_000003.11:g.128200156G= , CM000665.1:g.128200156G= GRCh37
NC_000003.10:g.129682846G= NCBI36
NG_029334.1:g.16875C= , LRG_295:g.16875C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1149C= MANE Plus Clinical ENSP00000417074.1:p.Asn383=
ENST00000696466.1:c.1431C= ENSP00000512647.1:p.Asn477=
ENST00000696672.1:c.127-3C= ENSP00000512796.1:n.127-3C=
ENST00000341105.7:c.1149C= MANE Select ENSP00000345681.2:p.Asn383=
ENST00000341105.6:c.1149C= ENSP00000345681.2:p.Asn383=
ENST00000430265.6:c.1107C= ENSP00000400259.2:p.Asn369=
ENST00000487848.5:c.1149C= ENSP00000417074.1:p.Asn383=
ENST00000489987.1:n.266C=
NM_001145661.1:c.1149C= , LRG_295t1:c.1149C= NP_001139133.1:p.Asn383=
NM_001145662.1:c.1107C= NP_001139134.1:p.Asn369=
NM_032638.4:c.1149C= , LRG_295t2:c.1149C= NP_116027.2:p.Asn383=
NM_001145661.2:c.1149C= MANE Plus Clinical NP_001139133.1:p.Asn383=
NM_032638.5:c.1149C= MANE Select NP_116027.2:p.Asn383=