Canonical Allele Identifier: CA2573136525

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1444697
• ClinVar RCV Id: RCV001982551
• dbSNP Id: rs2107671953

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128485815_128485816delinsAG , CM000665.2:g.128485815_128485816delinsAG	GRCh38
NC_000003.11:g.128204658_128204659delinsAG , CM000665.1:g.128204658_128204659delinsAG	GRCh37
NC_000003.10:g.129687348_129687349delinsAG	NCBI36
NG_029334.1:g.12372_12373delinsCT , LRG_295:g.12372_12373delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.782_783delinsCT MANE Plus Clinical	ENSP00000417074.1:p.Ser261Thr
ENST00000696466.1:c.1064_1065delinsCT	ENSP00000512647.1:p.Ser355Thr
ENST00000341105.7:c.782_783delinsCT MANE Select	ENSP00000345681.2:p.Ser261Thr
ENST00000341105.6:c.782_783delinsCT	ENSP00000345681.2:p.Ser261Thr
ENST00000430265.6:c.782_783delinsCT	ENSP00000400259.2:p.Ser261Thr
ENST00000487848.5:c.782_783delinsCT	ENSP00000417074.1:p.Ser261Thr
NM_001145661.1:c.782_783delinsCT , LRG_295t1:c.782_783delinsCT	NP_001139133.1:p.Ser261Thr
NM_001145662.1:c.782_783delinsCT	NP_001139134.1:p.Ser261Thr
NM_032638.4:c.782_783delinsCT , LRG_295t2:c.782_783delinsCT	NP_116027.2:p.Ser261Thr
NM_001145661.2:c.782_783delinsCT MANE Plus Clinical	NP_001139133.1:p.Ser261Thr
NM_032638.5:c.782_783delinsCT MANE Select	NP_116027.2:p.Ser261Thr