Canonical Allele Identifier: CA2600043
Gene: GATA2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.128486287G>A
GRCh37 chr3:g.128205130G>A
Revel Score:
ENST00000341105 (MANE Select) 0.663
ENST00000430265 0.663
ENST00000487848 (MANE Plus Clinical) 0.663
ENST00000492608 0.663
gnomAD v2:
3:128205130 G / A
gnomAD v4:
chr3-128486287-G-A
Joint Max Group AF 0.00004566 (SAS)
Exomes Max Group AF 0.000048 (SAS)
ClinVar RCV:
RCV000532650
RCV003133348
ClinVar Variation:
472456
dbSNP:
760660470
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128486287G>A , CM000665.2:g.128486287G>A GRCh38
NC_000003.11:g.128205130G>A , CM000665.1:g.128205130G>A GRCh37
NC_000003.10:g.129687820G>A NCBI36
NG_029334.1:g.11901C>T , LRG_295:g.11901C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.311C>T MANE Plus Clinical ENSP00000417074.1:p.Ala104Val
ENST00000696466.1:c.593C>T ENSP00000512647.1:p.Ala198Val
ENST00000341105.7:c.311C>T MANE Select ENSP00000345681.2:p.Ala104Val
ENST00000341105.6:c.311C>T ENSP00000345681.2:p.Ala104Val
ENST00000430265.6:c.311C>T ENSP00000400259.2:p.Ala104Val
ENST00000487848.5:c.311C>T ENSP00000417074.1:p.Ala104Val
ENST00000492608.1:c.311C>T ENSP00000418132.1:p.Ala104Val
NM_001145661.1:c.311C>T , LRG_295t1:c.311C>T NP_001139133.1:p.Ala104Val
NM_001145662.1:c.311C>T NP_001139134.1:p.Ala104Val
NM_032638.4:c.311C>T , LRG_295t2:c.311C>T NP_116027.2:p.Ala104Val
NM_001145661.2:c.311C>T MANE Plus Clinical NP_001139133.1:p.Ala104Val
NM_032638.5:c.311C>T MANE Select NP_116027.2:p.Ala104Val
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