Canonical Allele Identifier: CA2599980

Gene: GATA2

Linked Data

• ClinVar Variation Id: 404079
• ClinVar RCV Id: RCV000470368 ; RCV001785615 ; RCV003418151
• dbSNP Id: rs140382420
• ExAC: 3:128204772 C / T
• gnomAD v2: 3-128204772-C-T
• gnomAD v3: 3-128485929-C-T
• gnomAD v4: 3-128485929-C-T
• MyVariant Identifiers: chr3:g.128204772C>T (hg19) ; chr3:g.128485929C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128485929C>T , CM000665.2:g.128485929C>T	GRCh38
NC_000003.11:g.128204772C>T , CM000665.1:g.128204772C>T	GRCh37
NC_000003.10:g.129687462C>T	NCBI36
NG_029334.1:g.12259G>A , LRG_295:g.12259G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.669G>A MANE Plus Clinical	ENSP00000417074.1:p.Met223Ile
ENST00000696466.1:c.951G>A	ENSP00000512647.1:p.Met317Ile
ENST00000341105.7:c.669G>A MANE Select	ENSP00000345681.2:p.Met223Ile
ENST00000341105.6:c.669G>A	ENSP00000345681.2:p.Met223Ile
ENST00000430265.6:c.669G>A	ENSP00000400259.2:p.Met223Ile
ENST00000487848.5:c.669G>A	ENSP00000417074.1:p.Met223Ile
NM_001145661.1:c.669G>A , LRG_295t1:c.669G>A	NP_001139133.1:p.Met223Ile
NM_001145662.1:c.669G>A	NP_001139134.1:p.Met223Ile
NM_032638.4:c.669G>A , LRG_295t2:c.669G>A	NP_116027.2:p.Met223Ile
NM_001145661.2:c.669G>A MANE Plus Clinical	NP_001139133.1:p.Met223Ile
NM_032638.5:c.669G>A MANE Select	NP_116027.2:p.Met223Ile