Canonical Allele Identifier: CA2667540430

Gene: GATA2

Linked Data

• gnomAD v4: 3-128481707-A-AAGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481707_128481708insAGAG , CM000665.2:g.128481707_128481708insAGAG	GRCh38
NC_000003.11:g.128200550_128200551insAGAG , CM000665.1:g.128200550_128200551insAGAG	GRCh37
NC_000003.10:g.129683240_129683241insAGAG	NCBI36
NG_029334.1:g.16480_16481insCTCT , LRG_295:g.16480_16481insCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1143+111_1143+112insCTCT MANE Plus Clinical	ENSP00000417074.1:n.1143+111_1143+112insCTCT
ENST00000696466.1:c.1425+111_1425+112insCTCT	ENSP00000512647.1:n.1425+111_1425+112insCTCT
ENST00000696672.1:c.126+111_126+112insCTCT	ENSP00000512796.1:n.126+111_126+112insCTCT
ENST00000341105.7:c.1143+111_1143+112insCTCT MANE Select	ENSP00000345681.2:n.1143+111_1143+112insCTCT
ENST00000341105.6:c.1143+111_1143+112insCTCT	ENSP00000345681.2:n.1143+111_1143+112insCTCT
ENST00000430265.6:c.1101+111_1101+112insCTCT	ENSP00000400259.2:n.1101+111_1101+112insCTCT
ENST00000487848.5:c.1143+111_1143+112insCTCT	ENSP00000417074.1:n.1143+111_1143+112insCTCT
ENST00000489987.1:n.260+111_260+112insCTCT
NM_001145661.1:c.1143+111_1143+112insCTCT , LRG_295t1:c.1143+111_1143+112insCTCT	NP_001139133.1:n.1143+111_1143+112insCTCT
NM_001145662.1:c.1101+111_1101+112insCTCT	NP_001139134.1:n.1101+111_1101+112insCTCT
NM_032638.4:c.1143+111_1143+112insCTCT , LRG_295t2:c.1143+111_1143+112insCTCT	NP_116027.2:n.1143+111_1143+112insCTCT
NM_001145661.2:c.1143+111_1143+112insCTCT MANE Plus Clinical	NP_001139133.1:n.1143+111_1143+112insCTCT
NM_032638.5:c.1143+111_1143+112insCTCT MANE Select	NP_116027.2:n.1143+111_1143+112insCTCT