Canonical Allele Identifier: CA2499216463

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128483940_128483945delinsC , CM000665.2:g.128483940_128483945delinsC	GRCh38
NC_000003.11:g.128202783_128202788delinsC , CM000665.1:g.128202783_128202788delinsC	GRCh37
NC_000003.10:g.129685473_129685478delinsC	NCBI36
NG_029334.1:g.14243_14248delinsG , LRG_295:g.14243_14248delinsG

Transcript Alleles

HGVS	Amino-acid Change
NM_032638.5:c.932_937delinsG MANE Select	NP_116027.2:p.Thr311ArgfsTer?
ENST00000341105.7:c.932_937delinsG MANE Select	ENSP00000345681.2:p.Thr311ArgfsTer?
NM_001145661.2:c.932_937delinsG MANE Plus Clinical	NP_001139133.1:p.Thr311ArgfsTer?
ENST00000487848.6:c.932_937delinsG MANE Plus Clinical	ENSP00000417074.1:p.Thr311ArgfsTer?
NM_001145661.1:c.932_937delinsG , LRG_295t1:c.932_937delinsG	NP_001139133.1:p.Thr311ArgfsTer?
NM_001145662.1:c.932_937delinsG	NP_001139134.1:p.Thr311ArgfsTer?
NM_032638.4:c.932_937delinsG , LRG_295t2:c.932_937delinsG	NP_116027.2:p.Thr311ArgfsTer?
ENST00000341105.6:c.932_937delinsG	ENSP00000345681.2:p.Thr311ArgfsTer?
ENST00000430265.6:c.932_937delinsG	ENSP00000400259.2:p.Thr311ArgfsTer?
ENST00000487848.5:c.932_937delinsG	ENSP00000417074.1:p.Thr311ArgfsTer?
ENST00000696466.1:c.1214_1219delinsG	ENSP00000512647.1:p.Thr405ArgfsTer?