Canonical Allele Identifier: CA645523652
Gene: GATA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128486301_128486302insAGGCCCG , CM000665.2:g.128486301_128486302insAGGCCCG GRCh38
NC_000003.11:g.128205144_128205145insAGGCCCG , CM000665.1:g.128205144_128205145insAGGCCCG GRCh37
NC_000003.10:g.129687834_129687835insAGGCCCG NCBI36
NG_029334.1:g.11890_11891insCCTCGGG , LRG_295:g.11890_11891insCCTCGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.300_301insCCTCGGG MANE Plus Clinical ENSP00000417074.1:p.Gly101ProfsTer?
ENST00000696466.1:c.582_583insCCTCGGG ENSP00000512647.1:p.Gly195ProfsTer?
ENST00000341105.7:c.300_301insCCTCGGG MANE Select ENSP00000345681.2:p.Gly101ProfsTer?
ENST00000341105.6:c.300_301insCCTCGGG ENSP00000345681.2:p.Gly101ProfsTer?
ENST00000430265.6:c.300_301insCCTCGGG ENSP00000400259.2:p.Gly101ProfsTer?
ENST00000487848.5:c.300_301insCCTCGGG ENSP00000417074.1:p.Gly101ProfsTer?
ENST00000492608.1:c.300_301insCCTCGGG ENSP00000418132.1:p.Gly101ProfsTer?
NM_001145661.1:c.300_301insCCTCGGG , LRG_295t1:c.300_301insCCTCGGG NP_001139133.1:p.Gly101ProfsTer?
NM_001145662.1:c.300_301insCCTCGGG NP_001139134.1:p.Gly101ProfsTer?
NM_032638.4:c.300_301insCCTCGGG , LRG_295t2:c.300_301insCCTCGGG NP_116027.2:p.Gly101ProfsTer?
NM_001145661.2:c.300_301insCCTCGGG MANE Plus Clinical NP_001139133.1:p.Gly101ProfsTer?
NM_032638.5:c.300_301insCCTCGGG MANE Select NP_116027.2:p.Gly101ProfsTer?