Canonical Allele Identifier: CA546105034

Gene: GATA2

Linked Data

• dbSNP Id: rs1441381499
• gnomAD v2: 3-128198694-AG-A
• gnomAD v3: 3-128479851-AG-A
• gnomAD v4: 3-128479851-AG-A
• MyVariant Identifiers: chr3:g.128198695del (hg19) ; chr3:g.128479852del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128479854del , CM000665.2:g.128479854del	GRCh38
NC_000003.11:g.128198697del , CM000665.1:g.128198697del	GRCh37
NC_000003.10:g.129681387del	NCBI36
NG_029334.1:g.18336del , LRG_295:g.18336del

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.*1167del MANE Plus Clinical	ENSP00000417074.1:n.*1167del
ENST00000696466.1:c.*1167del	ENSP00000512647.1:n.*1167del
ENST00000696672.1:c.1585del	ENSP00000512796.1:n.1585del
ENST00000341105.7:c.*1167del MANE Select	ENSP00000345681.2:n.*1167del
ENST00000341105.6:c.*1167del	ENSP00000345681.2:n.*1167del
NM_001145661.1:c.*1167del , LRG_295t1:c.*1167del	NP_001139133.1:n.*1167del
NM_001145662.1:c.*1167del	NP_001139134.1:n.*1167del
NM_032638.4:c.*1167del , LRG_295t2:c.*1167del	NP_116027.2:n.*1167del
NM_001145661.2:c.*1167del MANE Plus Clinical	NP_001139133.1:n.*1167del
NM_032638.5:c.*1167del MANE Select	NP_116027.2:n.*1167del