Canonical Allele Identifier: CA2740090995

Gene: GATA2

Linked Data

• ClinVar Variation Id: 2943173
• ClinVar RCV Id: RCV003800291

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481923_128481937del , CM000665.2:g.128481923_128481937del	GRCh38
NC_000003.11:g.128200766_128200780del , CM000665.1:g.128200766_128200780del	GRCh37
NC_000003.10:g.129683456_129683470del	NCBI36
NG_029334.1:g.16253_16267del , LRG_295:g.16253_16267del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1027_1041del MANE Plus Clinical	ENSP00000417074.1:p.Arg343_Thr347del
ENST00000696466.1:c.1309_1323del	ENSP00000512647.1:p.Arg437_Thr441del
ENST00000696672.1:c.10_24del	ENSP00000512796.1:p.Arg4_Thr8del
ENST00000341105.7:c.1027_1041del MANE Select	ENSP00000345681.2:p.Arg343_Thr347del
ENST00000341105.6:c.1027_1041del	ENSP00000345681.2:p.Arg343_Thr347del
ENST00000430265.6:c.1018-33_1018-19del	ENSP00000400259.2:n.1018-33_1018-19del
ENST00000487848.5:c.1027_1041del	ENSP00000417074.1:p.Arg343_Thr347del
ENST00000489987.1:n.144_158del
NM_001145661.1:c.1027_1041del , LRG_295t1:c.1027_1041del	NP_001139133.1:p.Arg343_Thr347del
NM_001145662.1:c.1018-33_1018-19del	NP_001139134.1:n.1018-33_1018-19del
NM_032638.4:c.1027_1041del , LRG_295t2:c.1027_1041del	NP_116027.2:p.Arg343_Thr347del
NM_001145661.2:c.1027_1041del MANE Plus Clinical	NP_001139133.1:p.Arg343_Thr347del
NM_032638.5:c.1027_1041del MANE Select	NP_116027.2:p.Arg343_Thr347del