Canonical Allele Identifier: CA10614753
Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 343112
ClinVar RCV Id: RCV000298430
dbSNP Id: rs779730117

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128479846C>A , CM000665.2:g.128479846C>A GRCh38
NC_000003.11:g.128198689C>A , CM000665.1:g.128198689C>A GRCh37
NC_000003.10:g.129681379C>A NCBI36
NG_029334.1:g.18342G>T , LRG_295:g.18342G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000487848.6:c.*1173G>T MANE Plus Clinical ENSP00000417074.1:n.*1173G>T
ENST00000696466.1:c.*1173G>T ENSP00000512647.1:n.*1173G>T
ENST00000696672.1:c.1591G>T ENSP00000512796.1:n.1591G>T
ENST00000341105.7:c.*1173G>T MANE Select ENSP00000345681.2:n.*1173G>T
ENST00000341105.6:c.*1173G>T ENSP00000345681.2:n.*1173G>T
NM_001145661.1:c.*1173G>T , LRG_295t1:c.*1173G>T NP_001139133.1:n.*1173G>T
NM_001145662.1:c.*1173G>T NP_001139134.1:n.*1173G>T
NM_032638.4:c.*1173G>T , LRG_295t2:c.*1173G>T NP_116027.2:n.*1173G>T
NM_001145661.2:c.*1173G>T MANE Plus Clinical NP_001139133.1:n.*1173G>T
NM_032638.5:c.*1173G>T MANE Select NP_116027.2:n.*1173G>T