Canonical Allele Identifier: CA2667539850
Gene: GATA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128480624G>T , CM000665.2:g.128480624G>T GRCh38
NC_000003.11:g.128199467G>T , CM000665.1:g.128199467G>T GRCh37
NC_000003.10:g.129682157G>T NCBI36
NG_029334.1:g.17564C>A , LRG_295:g.17564C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.*395C>A MANE Plus Clinical ENSP00000417074.1:n.*395C>A
ENST00000696466.1:c.*395C>A ENSP00000512647.1:n.*395C>A
ENST00000696672.1:c.813C>A ENSP00000512796.1:n.813C>A
ENST00000341105.7:c.*395C>A MANE Select ENSP00000345681.2:n.*395C>A
ENST00000341105.6:c.*395C>A ENSP00000345681.2:n.*395C>A
ENST00000430265.6:c.*395C>A ENSP00000400259.2:n.*395C>A
ENST00000489987.1:n.955C>A
NM_001145661.1:c.*395C>A , LRG_295t1:c.*395C>A NP_001139133.1:n.*395C>A
NM_001145662.1:c.*395C>A NP_001139134.1:n.*395C>A
NM_032638.4:c.*395C>A , LRG_295t2:c.*395C>A NP_116027.2:n.*395C>A
NM_001145661.2:c.*395C>A MANE Plus Clinical NP_001139133.1:n.*395C>A
NM_032638.5:c.*395C>A MANE Select NP_116027.2:n.*395C>A