Canonical Allele Identifier: CA16020695
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481990_128482006dup , CM000665.2:g.128481990_128482006dup GRCh38
NC_000003.11:g.128200833_128200849dup , CM000665.1:g.128200833_128200849dup GRCh37
NC_000003.10:g.129683523_129683539dup NCBI36
NG_029334.1:g.16182_16198dup , LRG_295:g.16182_16198dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1018-62_1018-46dup MANE Plus Clinical ENSP00000417074.1:n.1018-62_1018-46dup
ENST00000696466.1:c.1300-62_1300-46dup ENSP00000512647.1:n.1300-62_1300-46dup
ENST00000341105.7:c.1018-62_1018-46dup MANE Select ENSP00000345681.2:n.1018-62_1018-46dup
ENST00000341105.6:c.1018-62_1018-46dup ENSP00000345681.2:n.1018-62_1018-46dup
ENST00000430265.6:c.1018-104_1018-88dup ENSP00000400259.2:n.1018-104_1018-88dup
ENST00000487848.5:c.1018-62_1018-46dup ENSP00000417074.1:n.1018-62_1018-46dup
ENST00000489987.1:n.73_89dup
NM_001145661.1:c.1018-62_1018-46dup , LRG_295t1:c.1018-62_1018-46dup NP_001139133.1:n.1018-62_1018-46dup
NM_001145662.1:c.1018-104_1018-88dup NP_001139134.1:n.1018-104_1018-88dup
NM_032638.4:c.1018-62_1018-46dup , LRG_295t2:c.1018-62_1018-46dup NP_116027.2:n.1018-62_1018-46dup
NM_001145661.2:c.1018-62_1018-46dup MANE Plus Clinical NP_001139133.1:n.1018-62_1018-46dup
NM_032638.5:c.1018-62_1018-46dup MANE Select NP_116027.2:n.1018-62_1018-46dup