Canonical Allele Identifier: CA1400712367
Gene: GATA2 HGNC NCBI

Linked Data

dbSNP Id: rs2068600883
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128479790_128479791dup , CM000665.2:g.128479790_128479791dup GRCh38
NC_000003.11:g.128198633_128198634dup , CM000665.1:g.128198633_128198634dup GRCh37
NC_000003.10:g.129681323_129681324dup NCBI36
NG_029334.1:g.18401_18402dup , LRG_295:g.18401_18402dup

Transcript Alleles

HGVS Amino-acid change
ENST00000487848.6:c.*1232_*1233dup MANE Plus Clinical ENSP00000417074.1:n.*1232_*1233dup
ENST00000696466.1:c.*1232_*1233dup ENSP00000512647.1:n.*1232_*1233dup
ENST00000696672.1:c.1650_1651dup ENSP00000512796.1:n.1650_1651dup
ENST00000341105.7:c.*1232_*1233dup MANE Select ENSP00000345681.2:n.*1232_*1233dup
ENST00000341105.6:c.*1232_*1233dup ENSP00000345681.2:n.*1232_*1233dup
NM_001145661.1:c.*1232_*1233dup , LRG_295t1:c.*1232_*1233dup NP_001139133.1:n.*1232_*1233dup
NM_001145662.1:c.*1232_*1233dup NP_001139134.1:n.*1232_*1233dup
NM_032638.4:c.*1232_*1233dup , LRG_295t2:c.*1232_*1233dup NP_116027.2:n.*1232_*1233dup
NM_001145661.2:c.*1232_*1233dup MANE Plus Clinical NP_001139133.1:n.*1232_*1233dup
NM_032638.5:c.*1232_*1233dup MANE Select NP_116027.2:n.*1232_*1233dup
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