Canonical Allele Identifier: CA1400716933
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128483456_128483458delinsTGA , CM000665.2:g.128483456_128483458delinsTGA GRCh38
NC_000003.11:g.128202299_128202301delinsTGA , CM000665.1:g.128202299_128202301delinsTGA GRCh37
NC_000003.10:g.129684989_129684991delinsTGA NCBI36
NG_029334.1:g.14730_14732delinsTCA , LRG_295:g.14730_14732delinsTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1017+402_1017+404delinsTCA MANE Plus Clinical ENSP00000417074.1:n.1017+402_1017+404delinsTCA
ENST00000696466.1:c.1299+402_1299+404delinsTCA ENSP00000512647.1:n.1299+402_1299+404delinsTCA
ENST00000341105.7:c.1017+402_1017+404delinsTCA MANE Select ENSP00000345681.2:n.1017+402_1017+404delinsTCA
ENST00000341105.6:c.1017+402_1017+404delinsTCA ENSP00000345681.2:n.1017+402_1017+404delinsTCA
ENST00000430265.6:c.1017+402_1017+404delinsTCA ENSP00000400259.2:n.1017+402_1017+404delinsTCA
ENST00000487848.5:c.1017+402_1017+404delinsTCA ENSP00000417074.1:n.1017+402_1017+404delinsTCA
NM_001145661.1:c.1017+402_1017+404delinsTCA , LRG_295t1:c.1017+402_1017+404delinsTCA NP_001139133.1:n.1017+402_1017+404delinsTCA
NM_001145662.1:c.1017+402_1017+404delinsTCA NP_001139134.1:n.1017+402_1017+404delinsTCA
NM_032638.4:c.1017+402_1017+404delinsTCA , LRG_295t2:c.1017+402_1017+404delinsTCA NP_116027.2:n.1017+402_1017+404delinsTCA
NM_001145661.2:c.1017+402_1017+404delinsTCA MANE Plus Clinical NP_001139133.1:n.1017+402_1017+404delinsTCA
NM_032638.5:c.1017+402_1017+404delinsTCA MANE Select NP_116027.2:n.1017+402_1017+404delinsTCA