Canonical Allele Identifier: CA1400715705
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128482190_128482192delinsTAC , CM000665.2:g.128482190_128482192delinsTAC GRCh38
NC_000003.11:g.128201033_128201035delinsTAC , CM000665.1:g.128201033_128201035delinsTAC GRCh37
NC_000003.10:g.129683723_129683725delinsTAC NCBI36
NG_029334.1:g.15996_15998delinsGTA , LRG_295:g.15996_15998delinsGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1018-248_1018-246delinsGTA MANE Plus Clinical ENSP00000417074.1:n.1018-248_1018-246delinsGTA
ENST00000696466.1:c.1300-248_1300-246delinsGTA ENSP00000512647.1:n.1300-248_1300-246delinsGTA
ENST00000341105.7:c.1018-248_1018-246delinsGTA MANE Select ENSP00000345681.2:n.1018-248_1018-246delinsGTA
ENST00000341105.6:c.1018-248_1018-246delinsGTA ENSP00000345681.2:n.1018-248_1018-246delinsGTA
ENST00000430265.6:c.1018-290_1018-288delinsGTA ENSP00000400259.2:n.1018-290_1018-288delinsGTA
ENST00000487848.5:c.1018-248_1018-246delinsGTA ENSP00000417074.1:n.1018-248_1018-246delinsGTA
NM_001145661.1:c.1018-248_1018-246delinsGTA , LRG_295t1:c.1018-248_1018-246delinsGTA NP_001139133.1:n.1018-248_1018-246delinsGTA
NM_001145662.1:c.1018-290_1018-288delinsGTA NP_001139134.1:n.1018-290_1018-288delinsGTA
NM_032638.4:c.1018-248_1018-246delinsGTA , LRG_295t2:c.1018-248_1018-246delinsGTA NP_116027.2:n.1018-248_1018-246delinsGTA
NM_001145661.2:c.1018-248_1018-246delinsGTA MANE Plus Clinical NP_001139133.1:n.1018-248_1018-246delinsGTA
NM_032638.5:c.1018-248_1018-246delinsGTA MANE Select NP_116027.2:n.1018-248_1018-246delinsGTA