Canonical Allele Identifier: CA2573052070
Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1314985
ClinVar RCV Id: RCV001766026
dbSNP Id: rs2107670384

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128483915_128483916insCTA , CM000665.2:g.128483915_128483916insCTA GRCh38
NC_000003.11:g.128202758_128202759insCTA , CM000665.1:g.128202758_128202759insCTA GRCh37
NC_000003.10:g.129685448_129685449insCTA NCBI36
NG_029334.1:g.14273_14274insAGT , LRG_295:g.14273_14274insAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.962_963insAGT MANE Plus Clinical ENSP00000417074.1:p.Leu321_Tyr322insVal
ENST00000696466.1:c.1244_1245insAGT ENSP00000512647.1:p.Leu415_Tyr416insVal
ENST00000341105.7:c.962_963insAGT MANE Select ENSP00000345681.2:p.Leu321_Tyr322insVal
ENST00000341105.6:c.962_963insAGT ENSP00000345681.2:p.Leu321_Tyr322insVal
ENST00000430265.6:c.962_963insAGT ENSP00000400259.2:p.Leu321_Tyr322insVal
ENST00000487848.5:c.962_963insAGT ENSP00000417074.1:p.Leu321_Tyr322insVal
NM_001145661.1:c.962_963insAGT , LRG_295t1:c.962_963insAGT NP_001139133.1:p.Leu321_Tyr322insVal
NM_001145662.1:c.962_963insAGT NP_001139134.1:p.Leu321_Tyr322insVal
NM_032638.4:c.962_963insAGT , LRG_295t2:c.962_963insAGT NP_116027.2:p.Leu321_Tyr322insVal
NM_001145661.2:c.962_963insAGT MANE Plus Clinical NP_001139133.1:p.Leu321_Tyr322insVal
NM_032638.5:c.962_963insAGT MANE Select NP_116027.2:p.Leu321_Tyr322insVal