Canonical Allele Identifier: CA1400715244
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481909A= , CM000665.2:g.128481909A= GRCh38
NC_000003.11:g.128200752A= , CM000665.1:g.128200752A= GRCh37
NC_000003.10:g.129683442A= NCBI36
NG_029334.1:g.16279T= , LRG_295:g.16279T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1053T= MANE Plus Clinical ENSP00000417074.1:p.Asn351=
ENST00000696466.1:c.1335T= ENSP00000512647.1:p.Asn445=
ENST00000696672.1:c.36T= ENSP00000512796.1:p.Asn12=
ENST00000341105.7:c.1053T= MANE Select ENSP00000345681.2:p.Asn351=
ENST00000341105.6:c.1053T= ENSP00000345681.2:p.Asn351=
ENST00000430265.6:c.1018-7T= ENSP00000400259.2:n.1018-7T=
ENST00000487848.5:c.1053T= ENSP00000417074.1:p.Asn351=
ENST00000489987.1:n.170T=
NM_001145661.1:c.1053T= , LRG_295t1:c.1053T= NP_001139133.1:p.Asn351=
NM_001145662.1:c.1018-7T= NP_001139134.1:n.1018-7T=
NM_032638.4:c.1053T= , LRG_295t2:c.1053T= NP_116027.2:p.Asn351=
NM_001145661.2:c.1053T= MANE Plus Clinical NP_001139133.1:p.Asn351=
NM_032638.5:c.1053T= MANE Select NP_116027.2:p.Asn351=