Canonical Allele Identifier: CA2499216452

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184187
• ClinVar RCV Id: RCV001542158
• dbSNP Id: rs869320770

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481940_128481943del , CM000665.2:g.128481940_128481943del	GRCh38
NC_000003.11:g.128200783_128200786del , CM000665.1:g.128200783_128200786del	GRCh37
NC_000003.10:g.129683473_129683476del	NCBI36
NG_029334.1:g.16247_16250del , LRG_295:g.16247_16250del

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.1021_1024del MANE Plus Clinical	ENSP00000417074.1:p.Ala341ProfsTer?
ENST00000696466.1:c.1303_1306del	ENSP00000512647.1:p.Ala435ProfsTer?
ENST00000696672.1:c.4_7del	ENSP00000512796.1:p.Ala2ProfsTer?
ENST00000341105.7:c.1021_1024del MANE Select	ENSP00000345681.2:p.Ala341ProfsTer?
ENST00000341105.6:c.1021_1024del	ENSP00000345681.2:p.Ala341ProfsTer?
ENST00000430265.6:c.1018-39_1018-36del	ENSP00000400259.2:n.1018-39_1018-36del
ENST00000487848.5:c.1021_1024del	ENSP00000417074.1:p.Ala341ProfsTer?
ENST00000489987.1:n.138_141del
NM_001145661.1:c.1021_1024del , LRG_295t1:c.1021_1024del	NP_001139133.1:p.Ala341ProfsTer?
NM_001145662.1:c.1018-39_1018-36del	NP_001139134.1:n.1018-39_1018-36del
NM_032638.4:c.1021_1024del , LRG_295t2:c.1021_1024del	NP_116027.2:p.Ala341ProfsTer?
NM_001145661.2:c.1021_1024del MANE Plus Clinical	NP_001139133.1:p.Ala341ProfsTer?
NM_032638.5:c.1021_1024del MANE Select	NP_116027.2:p.Ala341ProfsTer?