Canonical Allele Identifier: CA83377067
Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 435277
dbSNP Id: rs745812924

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128483375T>A , CM000665.2:g.128483375T>A GRCh38
NC_000003.11:g.128202218T>A , CM000665.1:g.128202218T>A GRCh37
NC_000003.10:g.129684908T>A NCBI36
NG_029334.1:g.14813A>T , LRG_295:g.14813A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1017+485A>T MANE Plus Clinical ENSP00000417074.1:n.1017+485A>T
ENST00000696466.1:c.1299+485A>T ENSP00000512647.1:n.1299+485A>T
ENST00000341105.7:c.1017+485A>T MANE Select ENSP00000345681.2:n.1017+485A>T
ENST00000341105.6:c.1017+485A>T ENSP00000345681.2:n.1017+485A>T
ENST00000430265.6:c.1017+485A>T ENSP00000400259.2:n.1017+485A>T
ENST00000487848.5:c.1017+485A>T ENSP00000417074.1:n.1017+485A>T
NM_001145661.1:c.1017+485A>T , LRG_295t1:c.1017+485A>T NP_001139133.1:n.1017+485A>T
NM_001145662.1:c.1017+485A>T NP_001139134.1:n.1017+485A>T
NM_032638.4:c.1017+485A>T , LRG_295t2:c.1017+485A>T NP_116027.2:n.1017+485A>T
NM_001145661.2:c.1017+485A>T MANE Plus Clinical NP_001139133.1:n.1017+485A>T
NM_032638.5:c.1017+485A>T MANE Select NP_116027.2:n.1017+485A>T