Canonical Allele Identifier: CA1400713247
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128480622A= , CM000665.2:g.128480622A= GRCh38
NC_000003.11:g.128199465A= , CM000665.1:g.128199465A= GRCh37
NC_000003.10:g.129682155A= NCBI36
NG_029334.1:g.17566T= , LRG_295:g.17566T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.*397T= MANE Plus Clinical ENSP00000417074.1:n.*397T=
ENST00000696466.1:c.*397T= ENSP00000512647.1:n.*397T=
ENST00000696672.1:c.815T= ENSP00000512796.1:n.815T=
ENST00000341105.7:c.*397T= MANE Select ENSP00000345681.2:n.*397T=
ENST00000341105.6:c.*397T= ENSP00000345681.2:n.*397T=
ENST00000430265.6:c.*397T= ENSP00000400259.2:n.*397T=
ENST00000489987.1:n.957T=
NM_001145661.1:c.*397T= , LRG_295t1:c.*397T= NP_001139133.1:n.*397T=
NM_001145662.1:c.*397T= NP_001139134.1:n.*397T=
NM_032638.4:c.*397T= , LRG_295t2:c.*397T= NP_116027.2:n.*397T=
NM_001145661.2:c.*397T= MANE Plus Clinical NP_001139133.1:n.*397T=
NM_032638.5:c.*397T= MANE Select NP_116027.2:n.*397T=