Canonical Allele Identifier: CA354412676
Gene: GATA2 HGNC NCBI

Linked Data

dbSNP Id: rs370164300

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481114C>G , CM000665.2:g.128481114C>G GRCh38
NC_000003.11:g.128199957C>G , CM000665.1:g.128199957C>G GRCh37
NC_000003.10:g.129682647C>G NCBI36
NG_029334.1:g.17074G>C , LRG_295:g.17074G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1348G>C MANE Plus Clinical ENSP00000417074.1:p.Gly450Arg
ENST00000696466.1:c.1630G>C ENSP00000512647.1:p.Gly544Arg
ENST00000696672.1:c.323G>C ENSP00000512796.1:p.Arg108Pro
ENST00000341105.7:c.1348G>C MANE Select ENSP00000345681.2:p.Gly450Arg
ENST00000341105.6:c.1348G>C ENSP00000345681.2:p.Gly450Arg
ENST00000430265.6:c.1306G>C ENSP00000400259.2:p.Gly436Arg
ENST00000487848.5:c.1348G>C ENSP00000417074.1:p.Gly450Arg
ENST00000489987.1:n.465G>C
NM_001145661.1:c.1348G>C , LRG_295t1:c.1348G>C NP_001139133.1:p.Gly450Arg
NM_001145662.1:c.1306G>C NP_001139134.1:p.Gly436Arg
NM_032638.4:c.1348G>C , LRG_295t2:c.1348G>C NP_116027.2:p.Gly450Arg
NM_001145661.2:c.1348G>C MANE Plus Clinical NP_001139133.1:p.Gly450Arg
NM_032638.5:c.1348G>C MANE Select NP_116027.2:p.Gly450Arg