Canonical Allele Identifier: CA2499216461

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184144
• ClinVar RCV Id: RCV001542102
• dbSNP Id: rs2107670410

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128483927_128483937del , CM000665.2:g.128483927_128483937del	GRCh38
NC_000003.11:g.128202770_128202780del , CM000665.1:g.128202770_128202780del	GRCh37
NC_000003.10:g.129685460_129685470del	NCBI36
NG_029334.1:g.14252_14262del , LRG_295:g.14252_14262del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.941_951del MANE Plus Clinical	ENSP00000417074.1:p.Tyr314CysfsTer?
ENST00000696466.1:c.1223_1233del	ENSP00000512647.1:p.Tyr408CysfsTer?
ENST00000341105.7:c.941_951del MANE Select	ENSP00000345681.2:p.Tyr314CysfsTer?
ENST00000341105.6:c.941_951del	ENSP00000345681.2:p.Tyr314CysfsTer?
ENST00000430265.6:c.941_951del	ENSP00000400259.2:p.Tyr314CysfsTer?
ENST00000487848.5:c.941_951del	ENSP00000417074.1:p.Tyr314CysfsTer?
NM_001145661.1:c.941_951del , LRG_295t1:c.941_951del	NP_001139133.1:p.Tyr314CysfsTer?
NM_001145662.1:c.941_951del	NP_001139134.1:p.Tyr314CysfsTer?
NM_032638.4:c.941_951del , LRG_295t2:c.941_951del	NP_116027.2:p.Tyr314CysfsTer?
NM_001145661.2:c.941_951del MANE Plus Clinical	NP_001139133.1:p.Tyr314CysfsTer?
NM_032638.5:c.941_951del MANE Select	NP_116027.2:p.Tyr314CysfsTer?