Canonical Allele Identifier: CA2599794
Gene: GATA2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.128481115G>T
GRCh37 chr3:g.128199958G>T
gnomAD v2:
3:128199958 G / T
gnomAD v3:
3:128481115 G / T
gnomAD v4:
chr3-128481115-G-T
Joint Max Group AF 0.00016378 (NFE)
Genomes Max Group AF 0.00006803 (NFE)
Exomes Max Group AF 0.00016579 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481115G>T , CM000665.2:g.128481115G>T GRCh38
NC_000003.11:g.128199958G>T , CM000665.1:g.128199958G>T GRCh37
NC_000003.10:g.129682648G>T NCBI36
NG_029334.1:g.17073C>A , LRG_295:g.17073C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1347C>A MANE Plus Clinical ENSP00000417074.1:p.Ser449=
ENST00000696466.1:c.1629C>A ENSP00000512647.1:p.Ser543=
ENST00000696672.1:c.322C>A ENSP00000512796.1:p.Arg108=
ENST00000341105.7:c.1347C>A MANE Select ENSP00000345681.2:p.Ser449=
ENST00000341105.6:c.1347C>A ENSP00000345681.2:p.Ser449=
ENST00000430265.6:c.1305C>A ENSP00000400259.2:p.Ser435=
ENST00000487848.5:c.1347C>A ENSP00000417074.1:p.Ser449=
ENST00000489987.1:n.464C>A
NM_001145661.1:c.1347C>A , LRG_295t1:c.1347C>A NP_001139133.1:p.Ser449=
NM_001145662.1:c.1305C>A NP_001139134.1:p.Ser435=
NM_032638.4:c.1347C>A , LRG_295t2:c.1347C>A NP_116027.2:p.Ser449=
NM_001145661.2:c.1347C>A MANE Plus Clinical NP_001139133.1:p.Ser449=
NM_032638.5:c.1347C>A MANE Select NP_116027.2:p.Ser449=
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