Canonical Allele Identifier: CA645529125

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1315540
• ClinVar RCV Id: RCV001774785
• dbSNP Id: rs2107668101
• COSMIC: COSM5944129

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481300_128481305del , CM000665.2:g.128481300_128481305del	GRCh38
NC_000003.11:g.128200143_128200148del , CM000665.1:g.128200143_128200148del	GRCh37
NC_000003.10:g.129682833_129682838del	NCBI36
NG_029334.1:g.16886_16891del , LRG_295:g.16886_16891del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1160_1165del MANE Plus Clinical	ENSP00000417074.1:p.Thr387_Met388del
ENST00000696466.1:c.1442_1447del	ENSP00000512647.1:p.Thr481_Met482del
ENST00000696672.1:c.135_140del	ENSP00000512796.1:p.Asp45_His46del
ENST00000341105.7:c.1160_1165del MANE Select	ENSP00000345681.2:p.Thr387_Met388del
ENST00000341105.6:c.1160_1165del	ENSP00000345681.2:p.Thr387_Met388del
ENST00000430265.6:c.1118_1123del	ENSP00000400259.2:p.Thr373_Met374del
ENST00000487848.5:c.1160_1165del	ENSP00000417074.1:p.Thr387_Met388del
ENST00000489987.1:n.277_282del
NM_001145661.1:c.1160_1165del , LRG_295t1:c.1160_1165del	NP_001139133.1:p.Thr387_Met388del
NM_001145662.1:c.1118_1123del	NP_001139134.1:p.Thr373_Met374del
NM_032638.4:c.1160_1165del , LRG_295t2:c.1160_1165del	NP_116027.2:p.Thr387_Met388del
NM_001145661.2:c.1160_1165del MANE Plus Clinical	NP_001139133.1:p.Thr387_Met388del
NM_032638.5:c.1160_1165del MANE Select	NP_116027.2:p.Thr387_Met388del