Canonical Allele Identifier: CA1400713258
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128480632A= , CM000665.2:g.128480632A= GRCh38
NC_000003.11:g.128199475A= , CM000665.1:g.128199475A= GRCh37
NC_000003.10:g.129682165A= NCBI36
NG_029334.1:g.17556T= , LRG_295:g.17556T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.*387T= MANE Plus Clinical ENSP00000417074.1:n.*387T=
ENST00000696466.1:c.*387T= ENSP00000512647.1:n.*387T=
ENST00000696672.1:c.805T= ENSP00000512796.1:n.805T=
ENST00000341105.7:c.*387T= MANE Select ENSP00000345681.2:n.*387T=
ENST00000341105.6:c.*387T= ENSP00000345681.2:n.*387T=
ENST00000430265.6:c.*387T= ENSP00000400259.2:n.*387T=
ENST00000489987.1:n.947T=
NM_001145661.1:c.*387T= , LRG_295t1:c.*387T= NP_001139133.1:n.*387T=
NM_001145662.1:c.*387T= NP_001139134.1:n.*387T=
NM_032638.4:c.*387T= , LRG_295t2:c.*387T= NP_116027.2:n.*387T=
NM_001145661.2:c.*387T= MANE Plus Clinical NP_001139133.1:n.*387T=
NM_032638.5:c.*387T= MANE Select NP_116027.2:n.*387T=