Canonical Allele Identifier: CA1400713266
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128480640_128480643delinsGACC , CM000665.2:g.128480640_128480643delinsGACC GRCh38
NC_000003.11:g.128199483_128199486delinsGACC , CM000665.1:g.128199483_128199486delinsGACC GRCh37
NC_000003.10:g.129682173_129682176delinsGACC NCBI36
NG_029334.1:g.17545_17548delinsGGTC , LRG_295:g.17545_17548delinsGGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.*376_*379delinsGGTC MANE Plus Clinical ENSP00000417074.1:n.*376_*379delinsGGTC
ENST00000696466.1:c.*376_*379delinsGGTC ENSP00000512647.1:n.*376_*379delinsGGTC
ENST00000696672.1:c.794_797delinsGGTC ENSP00000512796.1:n.794_797delinsGGTC
ENST00000341105.7:c.*376_*379delinsGGTC MANE Select ENSP00000345681.2:n.*376_*379delinsGGTC
ENST00000341105.6:c.*376_*379delinsGGTC ENSP00000345681.2:n.*376_*379delinsGGTC
ENST00000430265.6:c.*376_*379delinsGGTC ENSP00000400259.2:n.*376_*379delinsGGTC
ENST00000489987.1:n.936_939delinsGGTC
NM_001145661.1:c.*376_*379delinsGGTC , LRG_295t1:c.*376_*379delinsGGTC NP_001139133.1:n.*376_*379delinsGGTC
NM_001145662.1:c.*376_*379delinsGGTC NP_001139134.1:n.*376_*379delinsGGTC
NM_032638.4:c.*376_*379delinsGGTC , LRG_295t2:c.*376_*379delinsGGTC NP_116027.2:n.*376_*379delinsGGTC
NM_001145661.2:c.*376_*379delinsGGTC MANE Plus Clinical NP_001139133.1:n.*376_*379delinsGGTC
NM_032638.5:c.*376_*379delinsGGTC MANE Select NP_116027.2:n.*376_*379delinsGGTC