Canonical Allele Identifier: CA2758339563
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128480581_128480582dup , CM000665.2:g.128480581_128480582dup GRCh38
NC_000003.11:g.128199424_128199425dup , CM000665.1:g.128199424_128199425dup GRCh37
NC_000003.10:g.129682114_129682115dup NCBI36
NG_029334.1:g.17608_17609dup , LRG_295:g.17608_17609dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.*439_*440dup MANE Plus Clinical ENSP00000417074.1:n.*439_*440dup
ENST00000696466.1:c.*439_*440dup ENSP00000512647.1:n.*439_*440dup
ENST00000696672.1:c.857_858dup ENSP00000512796.1:n.857_858dup
ENST00000341105.7:c.*439_*440dup MANE Select ENSP00000345681.2:n.*439_*440dup
ENST00000341105.6:c.*439_*440dup ENSP00000345681.2:n.*439_*440dup
ENST00000430265.6:c.*439_*440dup ENSP00000400259.2:n.*439_*440dup
ENST00000489987.1:n.999_1000dup
NM_001145661.1:c.*439_*440dup , LRG_295t1:c.*439_*440dup NP_001139133.1:n.*439_*440dup
NM_001145662.1:c.*439_*440dup NP_001139134.1:n.*439_*440dup
NM_032638.4:c.*439_*440dup , LRG_295t2:c.*439_*440dup NP_116027.2:n.*439_*440dup
NM_001145661.2:c.*439_*440dup MANE Plus Clinical NP_001139133.1:n.*439_*440dup
NM_032638.5:c.*439_*440dup MANE Select NP_116027.2:n.*439_*440dup