Canonical Allele Identifier: CA916079814

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184186
• ClinVar RCV Id: RCV001542156
• dbSNP Id: rs2107668860

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481942_128481943insCTGCCTTGCCCTCCCAGTCG , CM000665.2:g.128481942_128481943insCTGCCTTGCCCTCCCAGTCG	GRCh38
NC_000003.11:g.128200785_128200786insCTGCCTTGCCCTCCCAGTCG , CM000665.1:g.128200785_128200786insCTGCCTTGCCCTCCCAGTCG	GRCh37
NC_000003.10:g.129683475_129683476insCTGCCTTGCCCTCCCAGTCG	NCBI36
NG_029334.1:g.16245_16246insCGACTGGGAGGGCAAGGCAG , LRG_295:g.16245_16246insCGACTGGGAGGGCAAGGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1019_1020insCGACTGGGAGGGCAAGGCAG MANE Plus Clinical	ENSP00000417074.1:p.Ala341AspfsTer?
ENST00000696466.1:c.1301_1302insCGACTGGGAGGGCAAGGCAG	ENSP00000512647.1:p.Ala435AspfsTer?
ENST00000696672.1:c.2_3insCGACTGGGAGGGCAAGGCAG	ENSP00000512796.1:p.Ala2AspfsTer?
ENST00000341105.7:c.1019_1020insCGACTGGGAGGGCAAGGCAG MANE Select	ENSP00000345681.2:p.Ala341AspfsTer?
ENST00000341105.6:c.1019_1020insCGACTGGGAGGGCAAGGCAG	ENSP00000345681.2:p.Ala341AspfsTer?
ENST00000430265.6:c.1018-41_1018-40insCGACTGGGAGGGCAAGGCAG	ENSP00000400259.2:n.1018-41_1018-40insCGACTGGGAGGGCAAGGCAG
ENST00000487848.5:c.1019_1020insCGACTGGGAGGGCAAGGCAG	ENSP00000417074.1:p.Ala341AspfsTer?
ENST00000489987.1:n.136_137insCGACTGGGAGGGCAAGGCAG
NM_001145661.1:c.1019_1020insCGACTGGGAGGGCAAGGCAG , LRG_295t1:c.1019_1020insCGACTGGGAGGGCAAGGCAG	NP_001139133.1:p.Ala341AspfsTer?
NM_001145662.1:c.1018-41_1018-40insCGACTGGGAGGGCAAGGCAG	NP_001139134.1:n.1018-41_1018-40insCGACTGGGAGGGCAAGGCAG
NM_032638.4:c.1019_1020insCGACTGGGAGGGCAAGGCAG , LRG_295t2:c.1019_1020insCGACTGGGAGGGCAAGGCAG	NP_116027.2:p.Ala341AspfsTer?
NM_001145661.2:c.1019_1020insCGACTGGGAGGGCAAGGCAG MANE Plus Clinical	NP_001139133.1:p.Ala341AspfsTer?
NM_032638.5:c.1019_1020insCGACTGGGAGGGCAAGGCAG MANE Select	NP_116027.2:p.Ala341AspfsTer?