Canonical Allele Identifier: CA1400715230
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481905G= , CM000665.2:g.128481905G= GRCh38
NC_000003.11:g.128200748G= , CM000665.1:g.128200748G= GRCh37
NC_000003.10:g.129683438G= NCBI36
NG_029334.1:g.16283C= , LRG_295:g.16283C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1057C= MANE Plus Clinical ENSP00000417074.1:p.Gln353=
ENST00000696466.1:c.1339C= ENSP00000512647.1:p.Gln447=
ENST00000696672.1:c.40C= ENSP00000512796.1:p.Gln14=
ENST00000341105.7:c.1057C= MANE Select ENSP00000345681.2:p.Gln353=
ENST00000341105.6:c.1057C= ENSP00000345681.2:p.Gln353=
ENST00000430265.6:c.1018-3C= ENSP00000400259.2:n.1018-3C=
ENST00000487848.5:c.1057C= ENSP00000417074.1:p.Gln353=
ENST00000489987.1:n.174C=
NM_001145661.1:c.1057C= , LRG_295t1:c.1057C= NP_001139133.1:p.Gln353=
NM_001145662.1:c.1018-3C= NP_001139134.1:n.1018-3C=
NM_032638.4:c.1057C= , LRG_295t2:c.1057C= NP_116027.2:p.Gln353=
NM_001145661.2:c.1057C= MANE Plus Clinical NP_001139133.1:p.Gln353=
NM_032638.5:c.1057C= MANE Select NP_116027.2:p.Gln353=