Canonical Allele Identifier: CA2600034
Gene: GATA2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.128486185A>G
GRCh37 chr3:g.128205028A>G
Revel Score:
ENST00000341105 (MANE Select) 0.505
ENST00000430265 0.505
ENST00000487848 (MANE Plus Clinical) 0.505
ENST00000492608 0.505
gnomAD v2:
3:128205028 A / G
gnomAD v3:
3:128486185 A / G
gnomAD v4:
chr3-128486185-A-G
Joint Max Group AF 0.00007741 (NFE)
Genomes Max Group AF 0.00002848 (NFE)
Exomes Max Group AF 0.00007775 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128486185A>G , CM000665.2:g.128486185A>G GRCh38
NC_000003.11:g.128205028A>G , CM000665.1:g.128205028A>G GRCh37
NC_000003.10:g.129687718A>G NCBI36
NG_029334.1:g.12003T>C , LRG_295:g.12003T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.413T>C MANE Plus Clinical ENSP00000417074.1:p.Leu138Pro
ENST00000696466.1:c.695T>C ENSP00000512647.1:p.Leu232Pro
ENST00000341105.7:c.413T>C MANE Select ENSP00000345681.2:p.Leu138Pro
ENST00000341105.6:c.413T>C ENSP00000345681.2:p.Leu138Pro
ENST00000430265.6:c.413T>C ENSP00000400259.2:p.Leu138Pro
ENST00000487848.5:c.413T>C ENSP00000417074.1:p.Leu138Pro
ENST00000492608.1:c.413T>C ENSP00000418132.1:p.Leu138Pro
NM_001145661.1:c.413T>C , LRG_295t1:c.413T>C NP_001139133.1:p.Leu138Pro
NM_001145662.1:c.413T>C NP_001139134.1:p.Leu138Pro
NM_032638.4:c.413T>C , LRG_295t2:c.413T>C NP_116027.2:p.Leu138Pro
NM_001145661.2:c.413T>C MANE Plus Clinical NP_001139133.1:p.Leu138Pro
NM_032638.5:c.413T>C MANE Select NP_116027.2:p.Leu138Pro
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