Canonical Allele Identifier: CA83377049

Gene: GATA2

Linked Data

• ClinVar Variation Id: 648345
• ClinVar RCV Id: RCV000803054
• dbSNP Id: rs948289045
• gnomAD v3: 3-128483347-C-T
• gnomAD v4: 3-128483347-C-T
• MyVariant Identifiers: chr3:g.128202190C>T (hg19) ; chr3:g.128483347C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128483347C>T , CM000665.2:g.128483347C>T	GRCh38
NC_000003.11:g.128202190C>T , CM000665.1:g.128202190C>T	GRCh37
NC_000003.10:g.129684880C>T	NCBI36
NG_029334.1:g.14841G>A , LRG_295:g.14841G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1017+513G>A MANE Plus Clinical	ENSP00000417074.1:n.1017+513G>A
ENST00000696466.1:c.1299+513G>A	ENSP00000512647.1:n.1299+513G>A
ENST00000341105.7:c.1017+513G>A MANE Select	ENSP00000345681.2:n.1017+513G>A
ENST00000341105.6:c.1017+513G>A	ENSP00000345681.2:n.1017+513G>A
ENST00000430265.6:c.1017+513G>A	ENSP00000400259.2:n.1017+513G>A
ENST00000487848.5:c.1017+513G>A	ENSP00000417074.1:n.1017+513G>A
NM_001145661.1:c.1017+513G>A , LRG_295t1:c.1017+513G>A	NP_001139133.1:n.1017+513G>A
NM_001145662.1:c.1017+513G>A	NP_001139134.1:n.1017+513G>A
NM_032638.4:c.1017+513G>A , LRG_295t2:c.1017+513G>A	NP_116027.2:n.1017+513G>A
NM_001145661.2:c.1017+513G>A MANE Plus Clinical	NP_001139133.1:n.1017+513G>A
NM_032638.5:c.1017+513G>A MANE Select	NP_116027.2:n.1017+513G>A