Canonical Allele Identifier: CA354404215
Gene: GATA2 HGNC NCBI

Linked Data

dbSNP Id: rs1283134489

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128483812del , CM000665.2:g.128483812del GRCh38
NC_000003.11:g.128202655del , CM000665.1:g.128202655del GRCh37
NC_000003.10:g.129685345del NCBI36
NG_029334.1:g.14377del , LRG_295:g.14377del

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1017+49del MANE Plus Clinical ENSP00000417074.1:n.1017+49del
ENST00000696466.1:c.1299+49del ENSP00000512647.1:n.1299+49del
ENST00000341105.7:c.1017+49del MANE Select ENSP00000345681.2:n.1017+49del
ENST00000341105.6:c.1017+49del ENSP00000345681.2:n.1017+49del
ENST00000430265.6:c.1017+49del ENSP00000400259.2:n.1017+49del
ENST00000487848.5:c.1017+49del ENSP00000417074.1:n.1017+49del
NM_001145661.1:c.1017+49del , LRG_295t1:c.1017+49del NP_001139133.1:n.1017+49del
NM_001145662.1:c.1017+49del NP_001139134.1:n.1017+49del
NM_032638.4:c.1017+49del , LRG_295t2:c.1017+49del NP_116027.2:n.1017+49del
NM_001145661.2:c.1017+49del MANE Plus Clinical NP_001139133.1:n.1017+49del
NM_032638.5:c.1017+49del MANE Select NP_116027.2:n.1017+49del