Canonical Allele Identifier: CA83370956

Gene: GATA2

Linked Data

• dbSNP Id: rs550708127
• gnomAD v2: 3-128203046-CG-C
• gnomAD v3: 3-128484203-CG-C
• gnomAD v4: 3-128484203-CG-C
• MyVariant Identifiers: chr3:g.128203047del (hg19) ; chr3:g.128484204del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128484204del , CM000665.2:g.128484204del	GRCh38
NC_000003.11:g.128203047del , CM000665.1:g.128203047del	GRCh37
NC_000003.10:g.129685737del	NCBI36
NG_029334.1:g.13984del , LRG_295:g.13984del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.872-199del MANE Plus Clinical	ENSP00000417074.1:n.872-199del
ENST00000696466.1:c.1154-199del	ENSP00000512647.1:n.1154-199del
ENST00000341105.7:c.872-199del MANE Select	ENSP00000345681.2:n.872-199del
ENST00000341105.6:c.872-199del	ENSP00000345681.2:n.872-199del
ENST00000430265.6:c.872-199del	ENSP00000400259.2:n.872-199del
ENST00000487848.5:c.872-199del	ENSP00000417074.1:n.872-199del
NM_001145661.1:c.872-199del , LRG_295t1:c.872-199del	NP_001139133.1:n.872-199del
NM_001145662.1:c.872-199del	NP_001139134.1:n.872-199del
NM_032638.4:c.872-199del , LRG_295t2:c.872-199del	NP_116027.2:n.872-199del
NM_001145661.2:c.872-199del MANE Plus Clinical	NP_001139133.1:n.872-199del
NM_032638.5:c.872-199del MANE Select	NP_116027.2:n.872-199del