Canonical Allele Identifier: CA2667541186

Gene: GATA2

Linked Data

• gnomAD v4: 3-128486481-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128486482del , CM000665.2:g.128486482del	GRCh38
NC_000003.11:g.128205325del , CM000665.1:g.128205325del	GRCh37
NC_000003.10:g.129688015del	NCBI36
NG_029334.1:g.11706del , LRG_295:g.11706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.230-114del MANE Plus Clinical	ENSP00000417074.1:n.230-114del
ENST00000696466.1:c.512-114del	ENSP00000512647.1:n.512-114del
ENST00000341105.7:c.230-114del MANE Select	ENSP00000345681.2:n.230-114del
ENST00000341105.6:c.230-114del	ENSP00000345681.2:n.230-114del
ENST00000430265.6:c.230-114del	ENSP00000400259.2:n.230-114del
ENST00000487848.5:c.230-114del	ENSP00000417074.1:n.230-114del
ENST00000492608.1:c.230-114del	ENSP00000418132.1:n.230-114del
NM_001145661.1:c.230-114del , LRG_295t1:c.230-114del	NP_001139133.1:n.230-114del
NM_001145662.1:c.230-114del	NP_001139134.1:n.230-114del
NM_032638.4:c.230-114del , LRG_295t2:c.230-114del	NP_116027.2:n.230-114del
NM_001145661.2:c.230-114del MANE Plus Clinical	NP_001139133.1:n.230-114del
NM_032638.5:c.230-114del MANE Select	NP_116027.2:n.230-114del