Canonical Allele Identifier: CA130385
Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 39587
dbSNP Id: rs1553770655

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128483323_128483350del , CM000665.2:g.128483323_128483350del GRCh38
NC_000003.11:g.128202166_128202193del , CM000665.1:g.128202166_128202193del GRCh37
NC_000003.10:g.129684856_129684883del NCBI36
NG_029334.1:g.14841_14868del , LRG_295:g.14841_14868del

Transcript Alleles

HGVS Amino-acid change
ENST00000487848.6:c.1017+513_1017+540del MANE Plus Clinical ENSP00000417074.1:n.1017+513_1017+540del
ENST00000696466.1:c.1299+513_1299+540del ENSP00000512647.1:n.1299+513_1299+540del
ENST00000341105.7:c.1017+513_1017+540del MANE Select ENSP00000345681.2:n.1017+513_1017+540del
ENST00000341105.6:c.1017+513_1017+540del ENSP00000345681.2:n.1017+513_1017+540del
ENST00000430265.6:c.1017+513_1017+540del ENSP00000400259.2:n.1017+513_1017+540del
ENST00000487848.5:c.1017+513_1017+540del ENSP00000417074.1:n.1017+513_1017+540del
NM_001145661.1:c.1017+513_1017+540del , LRG_295t1:c.1017+513_1017+540del NP_001139133.1:n.1017+513_1017+540del
NM_001145662.1:c.1017+513_1017+540del NP_001139134.1:n.1017+513_1017+540del
NM_032638.4:c.1017+513_1017+540del , LRG_295t2:c.1017+513_1017+540del NP_116027.2:n.1017+513_1017+540del
NM_001145661.2:c.1017+513_1017+540del MANE Plus Clinical NP_001139133.1:n.1017+513_1017+540del
NM_032638.5:c.1017+513_1017+540del MANE Select NP_116027.2:n.1017+513_1017+540del