Canonical Allele Identifier: CA83376053

Gene: GATA2

Linked Data

• dbSNP Id: rs542439570
• gnomAD v2: 3-128199514-CAA-C
• gnomAD v3: 3-128480671-CAA-C
• gnomAD v4: 3-128480671-CAA-C
• MyVariant Identifiers: chr3:g.128199515_128199516del (hg19) ; chr3:g.128480672_128480673del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128480672_128480673del , CM000665.2:g.128480672_128480673del	GRCh38
NC_000003.11:g.128199515_128199516del , CM000665.1:g.128199515_128199516del	GRCh37
NC_000003.10:g.129682205_129682206del	NCBI36
NG_029334.1:g.17515_17516del , LRG_295:g.17515_17516del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.*346_*347del MANE Plus Clinical	ENSP00000417074.1:n.*346_*347del
ENST00000696466.1:c.*346_*347del	ENSP00000512647.1:n.*346_*347del
ENST00000696672.1:c.764_765del	ENSP00000512796.1:n.764_765del
ENST00000341105.7:c.*346_*347del MANE Select	ENSP00000345681.2:n.*346_*347del
ENST00000341105.6:c.*346_*347del	ENSP00000345681.2:n.*346_*347del
ENST00000430265.6:c.*346_*347del	ENSP00000400259.2:n.*346_*347del
ENST00000489987.1:n.906_907del
NM_001145661.1:c.*346_*347del , LRG_295t1:c.*346_*347del	NP_001139133.1:n.*346_*347del
NM_001145662.1:c.*346_*347del	NP_001139134.1:n.*346_*347del
NM_032638.4:c.*346_*347del , LRG_295t2:c.*346_*347del	NP_116027.2:n.*346_*347del
NM_001145661.2:c.*346_*347del MANE Plus Clinical	NP_001139133.1:n.*346_*347del
NM_032638.5:c.*346_*347del MANE Select	NP_116027.2:n.*346_*347del