Canonical Allele Identifier: CA1400715842

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128482337_128482342delinsCCGATT , CM000665.2:g.128482337_128482342delinsCCGATT	GRCh38
NC_000003.11:g.128201180_128201185delinsCCGATT , CM000665.1:g.128201180_128201185delinsCCGATT	GRCh37
NC_000003.10:g.129683870_129683875delinsCCGATT	NCBI36
NG_029334.1:g.15846_15851delinsAATCGG , LRG_295:g.15846_15851delinsAATCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1018-398_1018-393delinsAATCGG MANE Plus Clinical	ENSP00000417074.1:n.1018-398_1018-393delinsAATCGG
ENST00000696466.1:c.1300-398_1300-393delinsAATCGG	ENSP00000512647.1:n.1300-398_1300-393delinsAATCGG
ENST00000341105.7:c.1018-398_1018-393delinsAATCGG MANE Select	ENSP00000345681.2:n.1018-398_1018-393delinsAATCGG
ENST00000341105.6:c.1018-398_1018-393delinsAATCGG	ENSP00000345681.2:n.1018-398_1018-393delinsAATCGG
ENST00000430265.6:c.1018-440_1018-435delinsAATCGG	ENSP00000400259.2:n.1018-440_1018-435delinsAATCGG
ENST00000487848.5:c.1018-398_1018-393delinsAATCGG	ENSP00000417074.1:n.1018-398_1018-393delinsAATCGG
NM_001145661.1:c.1018-398_1018-393delinsAATCGG , LRG_295t1:c.1018-398_1018-393delinsAATCGG	NP_001139133.1:n.1018-398_1018-393delinsAATCGG
NM_001145662.1:c.1018-440_1018-435delinsAATCGG	NP_001139134.1:n.1018-440_1018-435delinsAATCGG
NM_032638.4:c.1018-398_1018-393delinsAATCGG , LRG_295t2:c.1018-398_1018-393delinsAATCGG	NP_116027.2:n.1018-398_1018-393delinsAATCGG
NM_001145661.2:c.1018-398_1018-393delinsAATCGG MANE Plus Clinical	NP_001139133.1:n.1018-398_1018-393delinsAATCGG
NM_032638.5:c.1018-398_1018-393delinsAATCGG MANE Select	NP_116027.2:n.1018-398_1018-393delinsAATCGG