Canonical Allele Identifier: CA83372083

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1518119
• ClinVar RCV Id: RCV002021512
• dbSNP Id: rs868076604
• gnomAD v4: 3-128486312-G-A
• MyVariant Identifiers: chr3:g.128205155G>A (hg19) ; chr3:g.128486312G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128486312G>A , CM000665.2:g.128486312G>A	GRCh38
NC_000003.11:g.128205155G>A , CM000665.1:g.128205155G>A	GRCh37
NC_000003.10:g.129687845G>A	NCBI36
NG_029334.1:g.11876C>T , LRG_295:g.11876C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.286C>T MANE Plus Clinical	ENSP00000417074.1:p.Pro96Ser
ENST00000696466.1:c.568C>T	ENSP00000512647.1:p.Pro190Ser
ENST00000341105.7:c.286C>T MANE Select	ENSP00000345681.2:p.Pro96Ser
ENST00000341105.6:c.286C>T	ENSP00000345681.2:p.Pro96Ser
ENST00000430265.6:c.286C>T	ENSP00000400259.2:p.Pro96Ser
ENST00000487848.5:c.286C>T	ENSP00000417074.1:p.Pro96Ser
ENST00000492608.1:c.286C>T	ENSP00000418132.1:p.Pro96Ser
NM_001145661.1:c.286C>T , LRG_295t1:c.286C>T	NP_001139133.1:p.Pro96Ser
NM_001145662.1:c.286C>T	NP_001139134.1:p.Pro96Ser
NM_032638.4:c.286C>T , LRG_295t2:c.286C>T	NP_116027.2:p.Pro96Ser
NM_001145661.2:c.286C>T MANE Plus Clinical	NP_001139133.1:p.Pro96Ser
NM_032638.5:c.286C>T MANE Select	NP_116027.2:p.Pro96Ser