Canonical Allele Identifier: CA898647377

Gene: GATA2

Linked Data

• dbSNP Id: rs1444054506
• MyVariant Identifiers: chr3:g.128200477_128200479del (hg19) ; chr3:g.128481634_128481636del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481634_128481636del , CM000665.2:g.128481634_128481636del	GRCh38
NC_000003.11:g.128200477_128200479del , CM000665.1:g.128200477_128200479del	GRCh37
NC_000003.10:g.129683167_129683169del	NCBI36
NG_029334.1:g.16552_16554del , LRG_295:g.16552_16554del

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.1143+183_1143+185del MANE Plus Clinical	ENSP00000417074.1:n.1143+183_1143+185del
ENST00000696466.1:c.1425+183_1425+185del	ENSP00000512647.1:n.1425+183_1425+185del
ENST00000696672.1:c.126+183_126+185del	ENSP00000512796.1:n.126+183_126+185del
ENST00000341105.7:c.1143+183_1143+185del MANE Select	ENSP00000345681.2:n.1143+183_1143+185del
ENST00000341105.6:c.1143+183_1143+185del	ENSP00000345681.2:n.1143+183_1143+185del
ENST00000430265.6:c.1101+183_1101+185del	ENSP00000400259.2:n.1101+183_1101+185del
ENST00000487848.5:c.1143+183_1143+185del	ENSP00000417074.1:n.1143+183_1143+185del
ENST00000489987.1:n.260+183_260+185del
NM_001145661.1:c.1143+183_1143+185del , LRG_295t1:c.1143+183_1143+185del	NP_001139133.1:n.1143+183_1143+185del
NM_001145662.1:c.1101+183_1101+185del	NP_001139134.1:n.1101+183_1101+185del
NM_032638.4:c.1143+183_1143+185del , LRG_295t2:c.1143+183_1143+185del	NP_116027.2:n.1143+183_1143+185del
NM_001145661.2:c.1143+183_1143+185del MANE Plus Clinical	NP_001139133.1:n.1143+183_1143+185del
NM_032638.5:c.1143+183_1143+185del MANE Select	NP_116027.2:n.1143+183_1143+185del