Canonical Allele Identifier: CA354406401
Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1367844
ClinVar RCV Id: RCV001947511
dbSNP Id: rs2107672269

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128485978T>C , CM000665.2:g.128485978T>C GRCh38
NC_000003.11:g.128204821T>C , CM000665.1:g.128204821T>C GRCh37
NC_000003.10:g.129687511T>C NCBI36
NG_029334.1:g.12210A>G , LRG_295:g.12210A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.620A>G MANE Plus Clinical ENSP00000417074.1:p.Asp207Gly
ENST00000696466.1:c.902A>G ENSP00000512647.1:p.Asp301Gly
ENST00000341105.7:c.620A>G MANE Select ENSP00000345681.2:p.Asp207Gly
ENST00000341105.6:c.620A>G ENSP00000345681.2:p.Asp207Gly
ENST00000430265.6:c.620A>G ENSP00000400259.2:p.Asp207Gly
ENST00000487848.5:c.620A>G ENSP00000417074.1:p.Asp207Gly
NM_001145661.1:c.620A>G , LRG_295t1:c.620A>G NP_001139133.1:p.Asp207Gly
NM_001145662.1:c.620A>G NP_001139134.1:p.Asp207Gly
NM_032638.4:c.620A>G , LRG_295t2:c.620A>G NP_116027.2:p.Asp207Gly
NM_001145661.2:c.620A>G MANE Plus Clinical NP_001139133.1:p.Asp207Gly
NM_032638.5:c.620A>G MANE Select NP_116027.2:p.Asp207Gly