Canonical Allele Identifier: CA2573052070

Gene: GATA2

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