Canonical Allele Identifier: CA2499216432

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184160
• ClinVar RCV Id: RCV001542122
• dbSNP Id: rs2107668641

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481858_128481859del , CM000665.2:g.128481858_128481859del	GRCh38
NC_000003.11:g.128200701_128200702del , CM000665.1:g.128200701_128200702del	GRCh37
NC_000003.10:g.129683391_129683392del	NCBI36
NG_029334.1:g.16329_16330del , LRG_295:g.16329_16330del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1103_1104del MANE Plus Clinical	ENSP00000417074.1:p.Pro368ArgfsTer15
ENST00000696466.1:c.1385_1386del	ENSP00000512647.1:p.Pro462ArgfsTer15
ENST00000696672.1:c.86_87del	ENSP00000512796.1:p.Pro29ArgfsTer16
ENST00000341105.7:c.1103_1104del MANE Select	ENSP00000345681.2:p.Pro368ArgfsTer15
ENST00000341105.6:c.1103_1104del	ENSP00000345681.2:p.Pro368ArgfsTer15
ENST00000430265.6:c.1061_1062del	ENSP00000400259.2:p.Pro354ArgfsTer15
ENST00000487848.5:c.1103_1104del	ENSP00000417074.1:p.Pro368ArgfsTer15
ENST00000489987.1:n.220_221del
NM_001145661.1:c.1103_1104del , LRG_295t1:c.1103_1104del	NP_001139133.1:p.Pro368ArgfsTer15
NM_001145662.1:c.1061_1062del	NP_001139134.1:p.Pro354ArgfsTer15
NM_032638.4:c.1103_1104del , LRG_295t2:c.1103_1104del	NP_116027.2:p.Pro368ArgfsTer15
NM_001145661.2:c.1103_1104del MANE Plus Clinical	NP_001139133.1:p.Pro368ArgfsTer15
NM_032638.5:c.1103_1104del MANE Select	NP_116027.2:p.Pro368ArgfsTer15