Canonical Allele Identifier: CA128593
Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 29721
dbSNP Id: rs387906634

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481880C>A , CM000665.2:g.128481880C>A GRCh38
NC_000003.11:g.128200723C>A , CM000665.1:g.128200723C>A GRCh37
NC_000003.10:g.129683413C>A NCBI36
NG_029334.1:g.16308G>T , LRG_295:g.16308G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1082G>T MANE Plus Clinical ENSP00000417074.1:p.Arg361Leu
ENST00000696466.1:c.1364G>T ENSP00000512647.1:p.Arg455Leu
ENST00000696672.1:c.65G>T ENSP00000512796.1:p.Arg22Leu
ENST00000341105.7:c.1082G>T MANE Select ENSP00000345681.2:p.Arg361Leu
ENST00000341105.6:c.1082G>T ENSP00000345681.2:p.Arg361Leu
ENST00000430265.6:c.1040G>T ENSP00000400259.2:p.Arg347Leu
ENST00000487848.5:c.1082G>T ENSP00000417074.1:p.Arg361Leu
ENST00000489987.1:n.199G>T
NM_001145661.1:c.1082G>T , LRG_295t1:c.1082G>T NP_001139133.1:p.Arg361Leu
NM_001145662.1:c.1040G>T NP_001139134.1:p.Arg347Leu
NM_032638.4:c.1082G>T , LRG_295t2:c.1082G>T NP_116027.2:p.Arg361Leu
NM_001145661.2:c.1082G>T MANE Plus Clinical NP_001139133.1:p.Arg361Leu
NM_032638.5:c.1082G>T MANE Select NP_116027.2:p.Arg361Leu