Canonical Allele Identifier: CA354404536

Gene: GATA2

Linked Data

• ClinVar Variation Id: 2011605
• ClinVar RCV Id: RCV002838537
• MyVariant Identifiers: chr3:g.128202771T>C (hg19) ; chr3:g.128483928T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128483928T>C , CM000665.2:g.128483928T>C	GRCh38
NC_000003.11:g.128202771T>C , CM000665.1:g.128202771T>C	GRCh37
NC_000003.10:g.129685461T>C	NCBI36
NG_029334.1:g.14260A>G , LRG_295:g.14260A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.949A>G MANE Plus Clinical	ENSP00000417074.1:p.Asn317Asp
ENST00000696466.1:c.1231A>G	ENSP00000512647.1:p.Asn411Asp
ENST00000341105.7:c.949A>G MANE Select	ENSP00000345681.2:p.Asn317Asp
ENST00000341105.6:c.949A>G	ENSP00000345681.2:p.Asn317Asp
ENST00000430265.6:c.949A>G	ENSP00000400259.2:p.Asn317Asp
ENST00000487848.5:c.949A>G	ENSP00000417074.1:p.Asn317Asp
NM_001145661.1:c.949A>G , LRG_295t1:c.949A>G	NP_001139133.1:p.Asn317Asp
NM_001145662.1:c.949A>G	NP_001139134.1:p.Asn317Asp
NM_032638.4:c.949A>G , LRG_295t2:c.949A>G	NP_116027.2:p.Asn317Asp
NM_001145661.2:c.949A>G MANE Plus Clinical	NP_001139133.1:p.Asn317Asp
NM_032638.5:c.949A>G MANE Select	NP_116027.2:p.Asn317Asp