Canonical Allele Identifier: CA1139532296

Gene: GATA2

Linked Data

• ClinVar Variation Id: 966897
• ClinVar RCV Id: RCV001241681
• dbSNP Id: rs2068625186

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481281_128481296delinsCATG , CM000665.2:g.128481281_128481296delinsCATG	GRCh38
NC_000003.11:g.128200124_128200139delinsCATG , CM000665.1:g.128200124_128200139delinsCATG	GRCh37
NC_000003.10:g.129682814_129682829delinsCATG	NCBI36
NG_029334.1:g.16892_16907delinsCATG , LRG_295:g.16892_16907delinsCATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1166_1181delinsCATG MANE Plus Clinical	ENSP00000417074.1:p.Lys389_Gln394delinsThrTrp
ENST00000696466.1:c.1448_1463delinsCATG	ENSP00000512647.1:p.Lys483_Gln488delinsThrTrp
ENST00000696672.1:c.141_156delinsCATG	ENSP00000512796.1:p.Glu47_Pro52delinsAspMet
ENST00000341105.7:c.1166_1181delinsCATG MANE Select	ENSP00000345681.2:p.Lys389_Gln394delinsThrTrp
ENST00000341105.6:c.1166_1181delinsCATG	ENSP00000345681.2:p.Lys389_Gln394delinsThrTrp
ENST00000430265.6:c.1124_1139delinsCATG	ENSP00000400259.2:p.Lys375_Gln380delinsThrTrp
ENST00000487848.5:c.1166_1181delinsCATG	ENSP00000417074.1:p.Lys389_Gln394delinsThrTrp
ENST00000489987.1:n.283_298delinsCATG
NM_001145661.1:c.1166_1181delinsCATG , LRG_295t1:c.1166_1181delinsCATG	NP_001139133.1:p.Lys389_Gln394delinsThrTrp
NM_001145662.1:c.1124_1139delinsCATG	NP_001139134.1:p.Lys375_Gln380delinsThrTrp
NM_032638.4:c.1166_1181delinsCATG , LRG_295t2:c.1166_1181delinsCATG	NP_116027.2:p.Lys389_Gln394delinsThrTrp
NM_001145661.2:c.1166_1181delinsCATG MANE Plus Clinical	NP_001139133.1:p.Lys389_Gln394delinsThrTrp
NM_032638.5:c.1166_1181delinsCATG MANE Select	NP_116027.2:p.Lys389_Gln394delinsThrTrp