Canonical Allele Identifier: CA2838031897
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128486148_128486149insAC , CM000665.2:g.128486148_128486149insAC GRCh38
NC_000003.11:g.128204991_128204992insAC , CM000665.1:g.128204991_128204992insAC GRCh37
NC_000003.10:g.129687681_129687682insAC NCBI36
NG_029334.1:g.12039_12040insGT , LRG_295:g.12039_12040insGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.449_450insGT MANE Plus Clinical ENSP00000417074.1:p.Gly151Ter
ENST00000696466.1:c.731_732insGT ENSP00000512647.1:p.Gly245Ter
ENST00000341105.7:c.449_450insGT MANE Select ENSP00000345681.2:p.Gly151Ter
ENST00000341105.6:c.449_450insGT ENSP00000345681.2:p.Gly151Ter
ENST00000430265.6:c.449_450insGT ENSP00000400259.2:p.Gly151Ter
ENST00000487848.5:c.449_450insGT ENSP00000417074.1:p.Gly151Ter
ENST00000492608.1:c.449_450insGT ENSP00000418132.1:p.Gly150=
NM_001145661.1:c.449_450insGT , LRG_295t1:c.449_450insGT NP_001139133.1:p.Gly151Ter
NM_001145662.1:c.449_450insGT NP_001139134.1:p.Gly151Ter
NM_032638.4:c.449_450insGT , LRG_295t2:c.449_450insGT NP_116027.2:p.Gly151Ter
NM_001145661.2:c.449_450insGT MANE Plus Clinical NP_001139133.1:p.Gly151Ter
NM_032638.5:c.449_450insGT MANE Select NP_116027.2:p.Gly151Ter