Canonical Allele Identifier: CA2580616526

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1436785
• ClinVar RCV Id: RCV001955337
• dbSNP Id: rs2107667691

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481068_128481069del , CM000665.2:g.128481068_128481069del	GRCh38
NC_000003.11:g.128199911_128199912del , CM000665.1:g.128199911_128199912del	GRCh37
NC_000003.10:g.129682601_129682602del	NCBI36
NG_029334.1:g.17122_17123del , LRG_295:g.17122_17123del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1396_1397del MANE Plus Clinical	ENSP00000417074.1:p.Ser466LeufsTer?
ENST00000696466.1:c.1678_1679del	ENSP00000512647.1:p.Ser560LeufsTer?
ENST00000696672.1:c.371_372del	ENSP00000512796.1:p.Leu124ProfsTer11
ENST00000341105.7:c.1396_1397del MANE Select	ENSP00000345681.2:p.Ser466LeufsTer?
ENST00000341105.6:c.1396_1397del	ENSP00000345681.2:p.Ser466LeufsTer?
ENST00000430265.6:c.1354_1355del	ENSP00000400259.2:p.Ser452LeufsTer?
ENST00000487848.5:c.1396_1397del	ENSP00000417074.1:p.Ser466LeufsTer?
ENST00000489987.1:n.513_514del
NM_001145661.1:c.1396_1397del , LRG_295t1:c.1396_1397del	NP_001139133.1:p.Ser466LeufsTer?
NM_001145662.1:c.1354_1355del	NP_001139134.1:p.Ser452LeufsTer?
NM_032638.4:c.1396_1397del , LRG_295t2:c.1396_1397del	NP_116027.2:p.Ser466LeufsTer?
NM_001145661.2:c.1396_1397del MANE Plus Clinical	NP_001139133.1:p.Ser466LeufsTer?
NM_032638.5:c.1396_1397del MANE Select	NP_116027.2:p.Ser466LeufsTer?