Canonical Allele Identifier: CA2499216455

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184185
• ClinVar RCV Id: RCV001542155
• dbSNP Id: rs2107668869

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481943del , CM000665.2:g.128481943del	GRCh38
NC_000003.11:g.128200786del , CM000665.1:g.128200786del	GRCh37
NC_000003.10:g.129683476del	NCBI36
NG_029334.1:g.16245del , LRG_295:g.16245del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1019del MANE Plus Clinical	ENSP00000417074.1:p.Ser340TrpfsTer?
ENST00000696466.1:c.1301del	ENSP00000512647.1:p.Ser434TrpfsTer?
ENST00000696672.1:c.2del	ENSP00000512796.1:p.Ser1TrpfsTer?
ENST00000341105.7:c.1019del MANE Select	ENSP00000345681.2:p.Ser340TrpfsTer?
ENST00000341105.6:c.1019del	ENSP00000345681.2:p.Ser340TrpfsTer?
ENST00000430265.6:c.1018-41del	ENSP00000400259.2:n.1018-41del
ENST00000487848.5:c.1019del	ENSP00000417074.1:p.Ser340TrpfsTer?
ENST00000489987.1:n.136del
NM_001145661.1:c.1019del , LRG_295t1:c.1019del	NP_001139133.1:p.Ser340TrpfsTer?
NM_001145662.1:c.1018-41del	NP_001139134.1:n.1018-41del
NM_032638.4:c.1019del , LRG_295t2:c.1019del	NP_116027.2:p.Ser340TrpfsTer?
NM_001145661.2:c.1019del MANE Plus Clinical	NP_001139133.1:p.Ser340TrpfsTer?
NM_032638.5:c.1019del MANE Select	NP_116027.2:p.Ser340TrpfsTer?