Canonical Allele Identifier: CA2573136507

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1477755
• ClinVar RCV Id: RCV002018822
• dbSNP Id: rs2107672839

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128486278_128486279delinsTT , CM000665.2:g.128486278_128486279delinsTT	GRCh38
NC_000003.11:g.128205121_128205122delinsTT , CM000665.1:g.128205121_128205122delinsTT	GRCh37
NC_000003.10:g.129687811_129687812delinsTT	NCBI36
NG_029334.1:g.11909_11910delinsAA , LRG_295:g.11909_11910delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.319_320delinsAA MANE Plus Clinical	ENSP00000417074.1:p.Ala107Asn
ENST00000696466.1:c.601_602delinsAA	ENSP00000512647.1:p.Ala201Asn
ENST00000341105.7:c.319_320delinsAA MANE Select	ENSP00000345681.2:p.Ala107Asn
ENST00000341105.6:c.319_320delinsAA	ENSP00000345681.2:p.Ala107Asn
ENST00000430265.6:c.319_320delinsAA	ENSP00000400259.2:p.Ala107Asn
ENST00000487848.5:c.319_320delinsAA	ENSP00000417074.1:p.Ala107Asn
ENST00000492608.1:c.319_320delinsAA	ENSP00000418132.1:p.Ala107Asn
NM_001145661.1:c.319_320delinsAA , LRG_295t1:c.319_320delinsAA	NP_001139133.1:p.Ala107Asn
NM_001145662.1:c.319_320delinsAA	NP_001139134.1:p.Ala107Asn
NM_032638.4:c.319_320delinsAA , LRG_295t2:c.319_320delinsAA	NP_116027.2:p.Ala107Asn
NM_001145661.2:c.319_320delinsAA MANE Plus Clinical	NP_001139133.1:p.Ala107Asn
NM_032638.5:c.319_320delinsAA MANE Select	NP_116027.2:p.Ala107Asn