Canonical Allele Identifier: CA2599954
Gene: GATA2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.128485769T>C
GRCh37 chr3:g.128204612T>C
Revel Score:
ENST00000341105 (MANE Select) 0.344
ENST00000430265 0.344
ENST00000487848 (MANE Plus Clinical) 0.344
gnomAD v2:
3:128204612 T / C
gnomAD v3:
3:128485769 T / C
gnomAD v4:
chr3-128485769-T-C
Joint Max Group AF 0.00014353 (NFE)
Genomes Max Group AF 0.00009051 (NFE)
Exomes Max Group AF 0.00014325 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128485769T>C , CM000665.2:g.128485769T>C GRCh38
NC_000003.11:g.128204612T>C , CM000665.1:g.128204612T>C GRCh37
NC_000003.10:g.129687302T>C NCBI36
NG_029334.1:g.12419A>G , LRG_295:g.12419A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.829A>G MANE Plus Clinical ENSP00000417074.1:p.Ser277Gly
ENST00000696466.1:c.1111A>G ENSP00000512647.1:p.Ser371Gly
ENST00000341105.7:c.829A>G MANE Select ENSP00000345681.2:p.Ser277Gly
ENST00000341105.6:c.829A>G ENSP00000345681.2:p.Ser277Gly
ENST00000430265.6:c.829A>G ENSP00000400259.2:p.Ser277Gly
ENST00000487848.5:c.829A>G ENSP00000417074.1:p.Ser277Gly
NM_001145661.1:c.829A>G , LRG_295t1:c.829A>G NP_001139133.1:p.Ser277Gly
NM_001145662.1:c.829A>G NP_001139134.1:p.Ser277Gly
NM_032638.4:c.829A>G , LRG_295t2:c.829A>G NP_116027.2:p.Ser277Gly
NM_001145661.2:c.829A>G MANE Plus Clinical NP_001139133.1:p.Ser277Gly
NM_032638.5:c.829A>G MANE Select NP_116027.2:p.Ser277Gly
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