Canonical Allele Identifier: CA2577890702
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481796_128481809dup , CM000665.2:g.128481796_128481809dup GRCh38
NC_000003.11:g.128200639_128200652dup , CM000665.1:g.128200639_128200652dup GRCh37
NC_000003.10:g.129683329_129683342dup NCBI36
NG_029334.1:g.16388_16401dup , LRG_295:g.16388_16401dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1143+19_1143+32dup MANE Plus Clinical ENSP00000417074.1:n.1143+19_1143+32dup
ENST00000696466.1:c.1425+19_1425+32dup ENSP00000512647.1:n.1425+19_1425+32dup
ENST00000696672.1:c.126+19_126+32dup ENSP00000512796.1:n.126+19_126+32dup
ENST00000341105.7:c.1143+19_1143+32dup MANE Select ENSP00000345681.2:n.1143+19_1143+32dup
ENST00000341105.6:c.1143+19_1143+32dup ENSP00000345681.2:n.1143+19_1143+32dup
ENST00000430265.6:c.1101+19_1101+32dup ENSP00000400259.2:n.1101+19_1101+32dup
ENST00000487848.5:c.1143+19_1143+32dup ENSP00000417074.1:n.1143+19_1143+32dup
ENST00000489987.1:n.260+19_260+32dup
NM_001145661.1:c.1143+19_1143+32dup , LRG_295t1:c.1143+19_1143+32dup NP_001139133.1:n.1143+19_1143+32dup
NM_001145662.1:c.1101+19_1101+32dup NP_001139134.1:n.1101+19_1101+32dup
NM_032638.4:c.1143+19_1143+32dup , LRG_295t2:c.1143+19_1143+32dup NP_116027.2:n.1143+19_1143+32dup
NM_001145661.2:c.1143+19_1143+32dup MANE Plus Clinical NP_001139133.1:n.1143+19_1143+32dup
NM_032638.5:c.1143+19_1143+32dup MANE Select NP_116027.2:n.1143+19_1143+32dup