Canonical Allele Identifier: CA10617154
Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 343123
dbSNP Id: rs3803

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128480537G>A , CM000665.2:g.128480537G>A GRCh38
NC_000003.11:g.128199380G>A , CM000665.1:g.128199380G>A GRCh37
NC_000003.10:g.129682070G>A NCBI36
NG_029334.1:g.17651C>T , LRG_295:g.17651C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000487848.6:c.*482C>T MANE Plus Clinical ENSP00000417074.1:n.*482C>T
ENST00000696466.1:c.*482C>T ENSP00000512647.1:n.*482C>T
ENST00000696672.1:c.900C>T ENSP00000512796.1:n.900C>T
ENST00000341105.7:c.*482C>T MANE Select ENSP00000345681.2:n.*482C>T
ENST00000341105.6:c.*482C>T ENSP00000345681.2:n.*482C>T
ENST00000430265.6:c.*482C>T ENSP00000400259.2:n.*482C>T
ENST00000489987.1:n.1042C>T
NM_001145661.1:c.*482C>T , LRG_295t1:c.*482C>T NP_001139133.1:n.*482C>T
NM_001145662.1:c.*482C>T NP_001139134.1:n.*482C>T
NM_032638.4:c.*482C>T , LRG_295t2:c.*482C>T NP_116027.2:n.*482C>T
NM_001145661.2:c.*482C>T MANE Plus Clinical NP_001139133.1:n.*482C>T
NM_032638.5:c.*482C>T MANE Select NP_116027.2:n.*482C>T