Canonical Allele Identifier: CA1400714671

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481570_128481571delinsTC , CM000665.2:g.128481570_128481571delinsTC	GRCh38
NC_000003.11:g.128200413_128200414delinsTC , CM000665.1:g.128200413_128200414delinsTC	GRCh37
NC_000003.10:g.129683103_129683104delinsTC	NCBI36
NG_029334.1:g.16617_16618delinsGA , LRG_295:g.16617_16618delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1143+248_1143+249delinsGA MANE Plus Clinical	ENSP00000417074.1:n.1143+248_1143+249delinsGA
ENST00000696466.1:c.1425+248_1425+249delinsGA	ENSP00000512647.1:n.1425+248_1425+249delinsGA
ENST00000696672.1:c.126+248_126+249delinsGA	ENSP00000512796.1:n.126+248_126+249delinsGA
ENST00000341105.7:c.1143+248_1143+249delinsGA MANE Select	ENSP00000345681.2:n.1143+248_1143+249delinsGA
ENST00000341105.6:c.1143+248_1143+249delinsGA	ENSP00000345681.2:n.1143+248_1143+249delinsGA
ENST00000430265.6:c.1101+248_1101+249delinsGA	ENSP00000400259.2:n.1101+248_1101+249delinsGA
ENST00000487848.5:c.1143+248_1143+249delinsGA	ENSP00000417074.1:n.1143+248_1143+249delinsGA
ENST00000489987.1:n.260+248_260+249delinsGA
NM_001145661.1:c.1143+248_1143+249delinsGA , LRG_295t1:c.1143+248_1143+249delinsGA	NP_001139133.1:n.1143+248_1143+249delinsGA
NM_001145662.1:c.1101+248_1101+249delinsGA	NP_001139134.1:n.1101+248_1101+249delinsGA
NM_032638.4:c.1143+248_1143+249delinsGA , LRG_295t2:c.1143+248_1143+249delinsGA	NP_116027.2:n.1143+248_1143+249delinsGA
NM_001145661.2:c.1143+248_1143+249delinsGA MANE Plus Clinical	NP_001139133.1:n.1143+248_1143+249delinsGA
NM_032638.5:c.1143+248_1143+249delinsGA MANE Select	NP_116027.2:n.1143+248_1143+249delinsGA