Canonical Allele Identifier: CA435525585
Community Standard Title: NM_032638.5(GATA2):c.1071C>G (p.Thr357=)
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481891G>C , CM000665.2:g.128481891G>C GRCh38
NC_000003.11:g.128200734G>C , CM000665.1:g.128200734G>C GRCh37
NC_000003.10:g.129683424G>C NCBI36
NG_029334.1:g.16297C>G , LRG_295:g.16297C>G

Transcript Alleles

HGVS Amino-acid Change
NM_032638.5:c.1071C>G MANE Select NP_116027.2:p.Thr357=
ENST00000341105.7:c.1071C>G MANE Select ENSP00000345681.2:p.Thr357=
NM_001145661.2:c.1071C>G MANE Plus Clinical NP_001139133.1:p.Thr357=
ENST00000487848.6:c.1071C>G MANE Plus Clinical ENSP00000417074.1:p.Thr357=
NM_001145661.1:c.1071C>G , LRG_295t1:c.1071C>G NP_001139133.1:p.Thr357=
NM_001145662.1:c.1029C>G NP_001139134.1:p.Thr343=
NM_032638.4:c.1071C>G , LRG_295t2:c.1071C>G NP_116027.2:p.Thr357=
ENST00000341105.6:c.1071C>G ENSP00000345681.2:p.Thr357=
ENST00000430265.6:c.1029C>G ENSP00000400259.2:p.Thr343=
ENST00000487848.5:c.1071C>G ENSP00000417074.1:p.Thr357=
ENST00000489987.1:n.188C>G
ENST00000696466.1:c.1353C>G ENSP00000512647.1:p.Thr451=
ENST00000696672.1:c.54C>G ENSP00000512796.1:p.Thr18=