Canonical Allele Identifier: CA2499216437

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184223
• ClinVar RCV Id: RCV001542200
• dbSNP Id: rs2107668760

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481922del , CM000665.2:g.128481922del	GRCh38
NC_000003.11:g.128200765del , CM000665.1:g.128200765del	GRCh37
NC_000003.10:g.129683455del	NCBI36
NG_029334.1:g.16267del , LRG_295:g.16267del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1041del MANE Plus Clinical	ENSP00000417074.1:p.Cys348ValfsTer?
ENST00000696466.1:c.1323del	ENSP00000512647.1:p.Cys442ValfsTer?
ENST00000696672.1:c.24del	ENSP00000512796.1:p.Cys9ValfsTer?
ENST00000341105.7:c.1041del MANE Select	ENSP00000345681.2:p.Cys348ValfsTer?
ENST00000341105.6:c.1041del	ENSP00000345681.2:p.Cys348ValfsTer?
ENST00000430265.6:c.1018-19del	ENSP00000400259.2:n.1018-19del
ENST00000487848.5:c.1041del	ENSP00000417074.1:p.Cys348ValfsTer?
ENST00000489987.1:n.158del
NM_001145661.1:c.1041del , LRG_295t1:c.1041del	NP_001139133.1:p.Cys348ValfsTer?
NM_001145662.1:c.1018-19del	NP_001139134.1:n.1018-19del
NM_032638.4:c.1041del , LRG_295t2:c.1041del	NP_116027.2:p.Cys348ValfsTer?
NM_001145661.2:c.1041del MANE Plus Clinical	NP_001139133.1:p.Cys348ValfsTer?
NM_032638.5:c.1041del MANE Select	NP_116027.2:p.Cys348ValfsTer?