Canonical Allele Identifier: CA159909
Gene: GATA2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.128485811C>T
GRCh37 chr3:g.128204654C>T
Revel Score:
ENST00000341105 (MANE Select) 0.445
ENST00000430265 0.445
ENST00000487848 (MANE Plus Clinical) 0.445
gnomAD v2:
3:128204654 C / T
gnomAD v3:
3:128485811 C / T
gnomAD v4:
chr3-128485811-C-T
Joint Max Group AF 0.00000443 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128485811C>T , CM000665.2:g.128485811C>T GRCh38
NC_000003.11:g.128204654C>T , CM000665.1:g.128204654C>T GRCh37
NC_000003.10:g.129687344C>T NCBI36
NG_029334.1:g.12377G>A , LRG_295:g.12377G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.787G>A MANE Plus Clinical ENSP00000417074.1:p.Gly263Arg
ENST00000696466.1:c.1069G>A ENSP00000512647.1:p.Gly357Arg
ENST00000341105.7:c.787G>A MANE Select ENSP00000345681.2:p.Gly263Arg
ENST00000341105.6:c.787G>A ENSP00000345681.2:p.Gly263Arg
ENST00000430265.6:c.787G>A ENSP00000400259.2:p.Gly263Arg
ENST00000487848.5:c.787G>A ENSP00000417074.1:p.Gly263Arg
NM_001145661.1:c.787G>A , LRG_295t1:c.787G>A NP_001139133.1:p.Gly263Arg
NM_001145662.1:c.787G>A NP_001139134.1:p.Gly263Arg
NM_032638.4:c.787G>A , LRG_295t2:c.787G>A NP_116027.2:p.Gly263Arg
NM_001145661.2:c.787G>A MANE Plus Clinical NP_001139133.1:p.Gly263Arg
NM_032638.5:c.787G>A MANE Select NP_116027.2:p.Gly263Arg
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