Canonical Allele Identifier: CA1400713183
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128480569_128480571delinsATC , CM000665.2:g.128480569_128480571delinsATC GRCh38
NC_000003.11:g.128199412_128199414delinsATC , CM000665.1:g.128199412_128199414delinsATC GRCh37
NC_000003.10:g.129682102_129682104delinsATC NCBI36
NG_029334.1:g.17617_17619delinsGAT , LRG_295:g.17617_17619delinsGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.*448_*450delinsGAT MANE Plus Clinical ENSP00000417074.1:n.*448_*450delinsGAT
ENST00000696466.1:c.*448_*450delinsGAT ENSP00000512647.1:n.*448_*450delinsGAT
ENST00000696672.1:c.866_868delinsGAT ENSP00000512796.1:n.866_868delinsGAT
ENST00000341105.7:c.*448_*450delinsGAT MANE Select ENSP00000345681.2:n.*448_*450delinsGAT
ENST00000341105.6:c.*448_*450delinsGAT ENSP00000345681.2:n.*448_*450delinsGAT
ENST00000430265.6:c.*448_*450delinsGAT ENSP00000400259.2:n.*448_*450delinsGAT
ENST00000489987.1:n.1008_1010delinsGAT
NM_001145661.1:c.*448_*450delinsGAT , LRG_295t1:c.*448_*450delinsGAT NP_001139133.1:n.*448_*450delinsGAT
NM_001145662.1:c.*448_*450delinsGAT NP_001139134.1:n.*448_*450delinsGAT
NM_032638.4:c.*448_*450delinsGAT , LRG_295t2:c.*448_*450delinsGAT NP_116027.2:n.*448_*450delinsGAT
NM_001145661.2:c.*448_*450delinsGAT MANE Plus Clinical NP_001139133.1:n.*448_*450delinsGAT
NM_032638.5:c.*448_*450delinsGAT MANE Select NP_116027.2:n.*448_*450delinsGAT