Canonical Allele Identifier: CA2599774
Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 412762
ClinVar RCV Id: RCV000472901 RCV001150744 RCV001821310 RCV002256277 RCV003221997 RCV003243141
dbSNP Id: rs376805544
ExAC: 3:128199889 C / T
gnomAD v2: 3-128199889-C-T
gnomAD v3: 3-128481046-C-T
gnomAD v4: 3-128481046-C-T
COSMIC: COSM3380380
MyVariant Identifiers: chr3:g.128199889C>T (hg19) chr3:g.128481046C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481046C>T , CM000665.2:g.128481046C>T GRCh38
NC_000003.11:g.128199889C>T , CM000665.1:g.128199889C>T GRCh37
NC_000003.10:g.129682579C>T NCBI36
NG_029334.1:g.17142G>A , LRG_295:g.17142G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1416G>A MANE Plus Clinical ENSP00000417074.1:p.Pro472=
ENST00000696466.1:c.1698G>A ENSP00000512647.1:p.Pro566=
ENST00000696672.1:c.391G>A ENSP00000512796.1:p.Val131Ile
ENST00000341105.7:c.1416G>A MANE Select ENSP00000345681.2:p.Pro472=
ENST00000341105.6:c.1416G>A ENSP00000345681.2:p.Pro472=
ENST00000430265.6:c.1374G>A ENSP00000400259.2:p.Pro458=
ENST00000487848.5:c.1416G>A ENSP00000417074.1:p.Pro472=
ENST00000489987.1:n.533G>A
NM_001145661.1:c.1416G>A , LRG_295t1:c.1416G>A NP_001139133.1:p.Pro472=
NM_001145662.1:c.1374G>A NP_001139134.1:p.Pro458=
NM_032638.4:c.1416G>A , LRG_295t2:c.1416G>A NP_116027.2:p.Pro472=
NM_001145661.2:c.1416G>A MANE Plus Clinical NP_001139133.1:p.Pro472=
NM_032638.5:c.1416G>A MANE Select NP_116027.2:p.Pro472=
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