Canonical Allele Identifier: CA2599881
Gene: GATA2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.128481942C>T
GRCh37 chr3:g.128200785C>T
gnomAD v2:
3:128200785 C / T
gnomAD v3:
3:128481942 C / T
gnomAD v4:
chr3-128481942-C-T
Joint Max Group AF 0.0000773 (AMR)
Genomes Max Group AF 0.00006862 (EAS)
Exomes Max Group AF 0.00010427 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481942C>T , CM000665.2:g.128481942C>T GRCh38
NC_000003.11:g.128200785C>T , CM000665.1:g.128200785C>T GRCh37
NC_000003.10:g.129683475C>T NCBI36
NG_029334.1:g.16246G>A , LRG_295:g.16246G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1020G>A MANE Plus Clinical ENSP00000417074.1:p.Ser340=
ENST00000696466.1:c.1302G>A ENSP00000512647.1:p.Ser434=
ENST00000696672.1:c.3G>A ENSP00000512796.1:p.Ser1=
ENST00000341105.7:c.1020G>A MANE Select ENSP00000345681.2:p.Ser340=
ENST00000341105.6:c.1020G>A ENSP00000345681.2:p.Ser340=
ENST00000430265.6:c.1018-40G>A ENSP00000400259.2:n.1018-40G>A
ENST00000487848.5:c.1020G>A ENSP00000417074.1:p.Ser340=
ENST00000489987.1:n.137G>A
NM_001145661.1:c.1020G>A , LRG_295t1:c.1020G>A NP_001139133.1:p.Ser340=
NM_001145662.1:c.1018-40G>A NP_001139134.1:n.1018-40G>A
NM_032638.4:c.1020G>A , LRG_295t2:c.1020G>A NP_116027.2:p.Ser340=
NM_001145661.2:c.1020G>A MANE Plus Clinical NP_001139133.1:p.Ser340=
NM_032638.5:c.1020G>A MANE Select NP_116027.2:p.Ser340=
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