Canonical Allele Identifier: CA1400715621
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128482125_128482127delinsTCA , CM000665.2:g.128482125_128482127delinsTCA GRCh38
NC_000003.11:g.128200968_128200970delinsTCA , CM000665.1:g.128200968_128200970delinsTCA GRCh37
NC_000003.10:g.129683658_129683660delinsTCA NCBI36
NG_029334.1:g.16061_16063delinsTGA , LRG_295:g.16061_16063delinsTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1018-183_1018-181delinsTGA MANE Plus Clinical ENSP00000417074.1:n.1018-183_1018-181delinsTGA
ENST00000696466.1:c.1300-183_1300-181delinsTGA ENSP00000512647.1:n.1300-183_1300-181delinsTGA
ENST00000341105.7:c.1018-183_1018-181delinsTGA MANE Select ENSP00000345681.2:n.1018-183_1018-181delinsTGA
ENST00000341105.6:c.1018-183_1018-181delinsTGA ENSP00000345681.2:n.1018-183_1018-181delinsTGA
ENST00000430265.6:c.1018-225_1018-223delinsTGA ENSP00000400259.2:n.1018-225_1018-223delinsTGA
ENST00000487848.5:c.1018-183_1018-181delinsTGA ENSP00000417074.1:n.1018-183_1018-181delinsTGA
NM_001145661.1:c.1018-183_1018-181delinsTGA , LRG_295t1:c.1018-183_1018-181delinsTGA NP_001139133.1:n.1018-183_1018-181delinsTGA
NM_001145662.1:c.1018-225_1018-223delinsTGA NP_001139134.1:n.1018-225_1018-223delinsTGA
NM_032638.4:c.1018-183_1018-181delinsTGA , LRG_295t2:c.1018-183_1018-181delinsTGA NP_116027.2:n.1018-183_1018-181delinsTGA
NM_001145661.2:c.1018-183_1018-181delinsTGA MANE Plus Clinical NP_001139133.1:n.1018-183_1018-181delinsTGA
NM_032638.5:c.1018-183_1018-181delinsTGA MANE Select NP_116027.2:n.1018-183_1018-181delinsTGA