Canonical Allele Identifier: CA83376148

Gene: GATA2

Linked Data

• dbSNP Id: rs56396816
• MyVariant Identifiers: chr3:g.128199826del (hg19) ; chr3:g.128480983del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128480985del , CM000665.2:g.128480985del	GRCh38
NC_000003.11:g.128199828del , CM000665.1:g.128199828del	GRCh37
NC_000003.10:g.129682518del	NCBI36
NG_029334.1:g.17205del , LRG_295:g.17205del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.*36del MANE Plus Clinical	ENSP00000417074.1:n.*36del
ENST00000696466.1:c.*36del	ENSP00000512647.1:n.*36del
ENST00000696672.1:c.454del	ENSP00000512796.1:p.Asp152MetfsTer7
ENST00000341105.7:c.*36del MANE Select	ENSP00000345681.2:n.*36del
ENST00000341105.6:c.*36del	ENSP00000345681.2:n.*36del
ENST00000430265.6:c.*36del	ENSP00000400259.2:n.*36del
ENST00000489987.1:n.596del
NM_001145661.1:c.*36del , LRG_295t1:c.*36del	NP_001139133.1:n.*36del
NM_001145662.1:c.*36del	NP_001139134.1:n.*36del
NM_032638.4:c.*36del , LRG_295t2:c.*36del	NP_116027.2:n.*36del
NM_001145661.2:c.*36del MANE Plus Clinical	NP_001139133.1:n.*36del
NM_032638.5:c.*36del MANE Select	NP_116027.2:n.*36del