Canonical Allele Identifier: CA1400716942
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128483459_128483460delinsGT , CM000665.2:g.128483459_128483460delinsGT GRCh38
NC_000003.11:g.128202302_128202303delinsGT , CM000665.1:g.128202302_128202303delinsGT GRCh37
NC_000003.10:g.129684992_129684993delinsGT NCBI36
NG_029334.1:g.14728_14729delinsAC , LRG_295:g.14728_14729delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1017+400_1017+401delinsAC MANE Plus Clinical ENSP00000417074.1:n.1017+400_1017+401delinsAC
ENST00000696466.1:c.1299+400_1299+401delinsAC ENSP00000512647.1:n.1299+400_1299+401delinsAC
ENST00000341105.7:c.1017+400_1017+401delinsAC MANE Select ENSP00000345681.2:n.1017+400_1017+401delinsAC
ENST00000341105.6:c.1017+400_1017+401delinsAC ENSP00000345681.2:n.1017+400_1017+401delinsAC
ENST00000430265.6:c.1017+400_1017+401delinsAC ENSP00000400259.2:n.1017+400_1017+401delinsAC
ENST00000487848.5:c.1017+400_1017+401delinsAC ENSP00000417074.1:n.1017+400_1017+401delinsAC
NM_001145661.1:c.1017+400_1017+401delinsAC , LRG_295t1:c.1017+400_1017+401delinsAC NP_001139133.1:n.1017+400_1017+401delinsAC
NM_001145662.1:c.1017+400_1017+401delinsAC NP_001139134.1:n.1017+400_1017+401delinsAC
NM_032638.4:c.1017+400_1017+401delinsAC , LRG_295t2:c.1017+400_1017+401delinsAC NP_116027.2:n.1017+400_1017+401delinsAC
NM_001145661.2:c.1017+400_1017+401delinsAC MANE Plus Clinical NP_001139133.1:n.1017+400_1017+401delinsAC
NM_032638.5:c.1017+400_1017+401delinsAC MANE Select NP_116027.2:n.1017+400_1017+401delinsAC