Canonical Allele Identifier: CA1400718704
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128485545_128485547delinsGTT , CM000665.2:g.128485545_128485547delinsGTT GRCh38
NC_000003.11:g.128204388_128204390delinsGTT , CM000665.1:g.128204388_128204390delinsGTT GRCh37
NC_000003.10:g.129687078_129687080delinsGTT NCBI36
NG_029334.1:g.12641_12643delinsAAC , LRG_295:g.12641_12643delinsAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.871+180_871+182delinsAAC MANE Plus Clinical ENSP00000417074.1:n.871+180_871+182delinsAAC
ENST00000696466.1:c.1153+180_1153+182delinsAAC ENSP00000512647.1:n.1153+180_1153+182delinsAAC
ENST00000341105.7:c.871+180_871+182delinsAAC MANE Select ENSP00000345681.2:n.871+180_871+182delinsAAC
ENST00000341105.6:c.871+180_871+182delinsAAC ENSP00000345681.2:n.871+180_871+182delinsAAC
ENST00000430265.6:c.871+180_871+182delinsAAC ENSP00000400259.2:n.871+180_871+182delinsAAC
ENST00000487848.5:c.871+180_871+182delinsAAC ENSP00000417074.1:n.871+180_871+182delinsAAC
NM_001145661.1:c.871+180_871+182delinsAAC , LRG_295t1:c.871+180_871+182delinsAAC NP_001139133.1:n.871+180_871+182delinsAAC
NM_001145662.1:c.871+180_871+182delinsAAC NP_001139134.1:n.871+180_871+182delinsAAC
NM_032638.4:c.871+180_871+182delinsAAC , LRG_295t2:c.871+180_871+182delinsAAC NP_116027.2:n.871+180_871+182delinsAAC
NM_001145661.2:c.871+180_871+182delinsAAC MANE Plus Clinical NP_001139133.1:n.871+180_871+182delinsAAC
NM_032638.5:c.871+180_871+182delinsAAC MANE Select NP_116027.2:n.871+180_871+182delinsAAC