Canonical Allele Identifier: CA1400719618

Gene: GATA2

Linked Data

• dbSNP Id: rs2068702168
• gnomAD v4: 3-128486502-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128486504_128486505del , CM000665.2:g.128486504_128486505del	GRCh38
NC_000003.11:g.128205347_128205348del , CM000665.1:g.128205347_128205348del	GRCh37
NC_000003.10:g.129688037_129688038del	NCBI36
NG_029334.1:g.11684_11685del , LRG_295:g.11684_11685del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.230-136_230-135del MANE Plus Clinical	ENSP00000417074.1:n.230-136_230-135del
ENST00000696466.1:c.512-136_512-135del	ENSP00000512647.1:n.512-136_512-135del
ENST00000341105.7:c.230-136_230-135del MANE Select	ENSP00000345681.2:n.230-136_230-135del
ENST00000341105.6:c.230-136_230-135del	ENSP00000345681.2:n.230-136_230-135del
ENST00000430265.6:c.230-136_230-135del	ENSP00000400259.2:n.230-136_230-135del
ENST00000487848.5:c.230-136_230-135del	ENSP00000417074.1:n.230-136_230-135del
ENST00000492608.1:c.230-136_230-135del	ENSP00000418132.1:n.230-136_230-135del
NM_001145661.1:c.230-136_230-135del , LRG_295t1:c.230-136_230-135del	NP_001139133.1:n.230-136_230-135del
NM_001145662.1:c.230-136_230-135del	NP_001139134.1:n.230-136_230-135del
NM_032638.4:c.230-136_230-135del , LRG_295t2:c.230-136_230-135del	NP_116027.2:n.230-136_230-135del
NM_001145661.2:c.230-136_230-135del MANE Plus Clinical	NP_001139133.1:n.230-136_230-135del
NM_032638.5:c.230-136_230-135del MANE Select	NP_116027.2:n.230-136_230-135del