Canonical Allele Identifier: CA1053361284

Gene: GATA2

Linked Data

• dbSNP Id: rs2068630600
• gnomAD v3: 3-128481691-GCTCA-G
• gnomAD v4: 3-128481691-GCTCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481696_128481699del , CM000665.2:g.128481696_128481699del	GRCh38
NC_000003.11:g.128200539_128200542del , CM000665.1:g.128200539_128200542del	GRCh37
NC_000003.10:g.129683229_129683232del	NCBI36
NG_029334.1:g.16493_16496del , LRG_295:g.16493_16496del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1143+124_1143+127del MANE Plus Clinical	ENSP00000417074.1:n.1143+124_1143+127del
ENST00000696466.1:c.1425+124_1425+127del	ENSP00000512647.1:n.1425+124_1425+127del
ENST00000696672.1:c.126+124_126+127del	ENSP00000512796.1:n.126+124_126+127del
ENST00000341105.7:c.1143+124_1143+127del MANE Select	ENSP00000345681.2:n.1143+124_1143+127del
ENST00000341105.6:c.1143+124_1143+127del	ENSP00000345681.2:n.1143+124_1143+127del
ENST00000430265.6:c.1101+124_1101+127del	ENSP00000400259.2:n.1101+124_1101+127del
ENST00000487848.5:c.1143+124_1143+127del	ENSP00000417074.1:n.1143+124_1143+127del
ENST00000489987.1:n.260+124_260+127del
NM_001145661.1:c.1143+124_1143+127del , LRG_295t1:c.1143+124_1143+127del	NP_001139133.1:n.1143+124_1143+127del
NM_001145662.1:c.1101+124_1101+127del	NP_001139134.1:n.1101+124_1101+127del
NM_032638.4:c.1143+124_1143+127del , LRG_295t2:c.1143+124_1143+127del	NP_116027.2:n.1143+124_1143+127del
NM_001145661.2:c.1143+124_1143+127del MANE Plus Clinical	NP_001139133.1:n.1143+124_1143+127del
NM_032638.5:c.1143+124_1143+127del MANE Select	NP_116027.2:n.1143+124_1143+127del