Canonical Allele Identifier: CA2599922

Gene: GATA2

Linked Data

• dbSNP Id: rs746118205
• ExAC: 3:128202861 AGGGAGAGACACG / A
• gnomAD v2: 3-128202861-AGGGAGAGACACG-A
• gnomAD v4: 3-128484018-AGGGAGAGACACG-A
• MyVariant Identifiers: chr3:g.128202862_128202873del (hg19) ; chr3:g.128484019_128484030del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128484022_128484033del , CM000665.2:g.128484022_128484033del	GRCh38
NC_000003.11:g.128202865_128202876del , CM000665.1:g.128202865_128202876del	GRCh37
NC_000003.10:g.129685555_129685566del	NCBI36
NG_029334.1:g.14158_14169del , LRG_295:g.14158_14169del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.872-25_872-14del MANE Plus Clinical	ENSP00000417074.1:n.872-25_872-14del
ENST00000696466.1:c.1154-25_1154-14del	ENSP00000512647.1:n.1154-25_1154-14del
ENST00000341105.7:c.872-25_872-14del MANE Select	ENSP00000345681.2:n.872-25_872-14del
ENST00000341105.6:c.872-25_872-14del	ENSP00000345681.2:n.872-25_872-14del
ENST00000430265.6:c.872-25_872-14del	ENSP00000400259.2:n.872-25_872-14del
ENST00000487848.5:c.872-25_872-14del	ENSP00000417074.1:n.872-25_872-14del
NM_001145661.1:c.872-25_872-14del , LRG_295t1:c.872-25_872-14del	NP_001139133.1:n.872-25_872-14del
NM_001145662.1:c.872-25_872-14del	NP_001139134.1:n.872-25_872-14del
NM_032638.4:c.872-25_872-14del , LRG_295t2:c.872-25_872-14del	NP_116027.2:n.872-25_872-14del
NM_001145661.2:c.872-25_872-14del MANE Plus Clinical	NP_001139133.1:n.872-25_872-14del
NM_032638.5:c.872-25_872-14del MANE Select	NP_116027.2:n.872-25_872-14del