Canonical Allele Identifier: CA645529129
Gene: GATA2 HGNC NCBI

Linked Data

COSMIC: COSM41612

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481924_128481941del , CM000665.2:g.128481924_128481941del GRCh38
NC_000003.11:g.128200767_128200784del , CM000665.1:g.128200767_128200784del GRCh37
NC_000003.10:g.129683457_129683474del NCBI36
NG_029334.1:g.16247_16264del , LRG_295:g.16247_16264del

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1021_1038del MANE Plus Clinical ENSP00000417074.1:p.Ala341_Gly346del
ENST00000696466.1:c.1303_1320del ENSP00000512647.1:p.Ala435_Gly440del
ENST00000696672.1:c.4_21del ENSP00000512796.1:p.Ala2_Gly7del
ENST00000341105.7:c.1021_1038del MANE Select ENSP00000345681.2:p.Ala341_Gly346del
ENST00000341105.6:c.1021_1038del ENSP00000345681.2:p.Ala341_Gly346del
ENST00000430265.6:c.1018-39_1018-22del ENSP00000400259.2:n.1018-39_1018-22del
ENST00000487848.5:c.1021_1038del ENSP00000417074.1:p.Ala341_Gly346del
ENST00000489987.1:n.138_155del
NM_001145661.1:c.1021_1038del , LRG_295t1:c.1021_1038del NP_001139133.1:p.Ala341_Gly346del
NM_001145662.1:c.1018-39_1018-22del NP_001139134.1:n.1018-39_1018-22del
NM_032638.4:c.1021_1038del , LRG_295t2:c.1021_1038del NP_116027.2:p.Ala341_Gly346del
NM_001145661.2:c.1021_1038del MANE Plus Clinical NP_001139133.1:p.Ala341_Gly346del
NM_032638.5:c.1021_1038del MANE Select NP_116027.2:p.Ala341_Gly346del