Canonical Allele Identifier: CA1400716705
Gene: GATA2 HGNC NCBI

Linked Data

dbSNP Id: rs2068653382
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128483242_128483248del , CM000665.2:g.128483242_128483248del GRCh38
NC_000003.11:g.128202085_128202091del , CM000665.1:g.128202085_128202091del GRCh37
NC_000003.10:g.129684775_129684781del NCBI36
NG_029334.1:g.14942_14948del , LRG_295:g.14942_14948del

Transcript Alleles

HGVS Amino-acid change
ENST00000487848.6:c.1017+614_1017+620del MANE Plus Clinical ENSP00000417074.1:n.1017+614_1017+620del
ENST00000696466.1:c.1299+614_1299+620del ENSP00000512647.1:n.1299+614_1299+620del
ENST00000341105.7:c.1017+614_1017+620del MANE Select ENSP00000345681.2:n.1017+614_1017+620del
ENST00000341105.6:c.1017+614_1017+620del ENSP00000345681.2:n.1017+614_1017+620del
ENST00000430265.6:c.1017+614_1017+620del ENSP00000400259.2:n.1017+614_1017+620del
ENST00000487848.5:c.1017+614_1017+620del ENSP00000417074.1:n.1017+614_1017+620del
NM_001145661.1:c.1017+614_1017+620del , LRG_295t1:c.1017+614_1017+620del NP_001139133.1:n.1017+614_1017+620del
NM_001145662.1:c.1017+614_1017+620del NP_001139134.1:n.1017+614_1017+620del
NM_032638.4:c.1017+614_1017+620del , LRG_295t2:c.1017+614_1017+620del NP_116027.2:n.1017+614_1017+620del
NM_001145661.2:c.1017+614_1017+620del MANE Plus Clinical NP_001139133.1:n.1017+614_1017+620del
NM_032638.5:c.1017+614_1017+620del MANE Select NP_116027.2:n.1017+614_1017+620del
Search 100 bp 5'
Search 100 bp 3'