Canonical Allele Identifier: CA83376298

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1692023
• ClinVar RCV Id: RCV002257024
• dbSNP Id: rs371096438
• MyVariant Identifiers: chr3:g.128200108C>A (hg19) ; chr3:g.128481265C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481265C>A , CM000665.2:g.128481265C>A	GRCh38
NC_000003.11:g.128200108C>A , CM000665.1:g.128200108C>A	GRCh37
NC_000003.10:g.129682798C>A	NCBI36
NG_029334.1:g.16923G>T , LRG_295:g.16923G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1197G>T MANE Plus Clinical	ENSP00000417074.1:p.Lys399Asn
ENST00000696466.1:c.1479G>T	ENSP00000512647.1:p.Lys493Asn
ENST00000696672.1:c.172G>T	ENSP00000512796.1:p.Asp58Tyr
ENST00000341105.7:c.1197G>T MANE Select	ENSP00000345681.2:p.Lys399Asn
ENST00000341105.6:c.1197G>T	ENSP00000345681.2:p.Lys399Asn
ENST00000430265.6:c.1155G>T	ENSP00000400259.2:p.Lys385Asn
ENST00000487848.5:c.1197G>T	ENSP00000417074.1:p.Lys399Asn
ENST00000489987.1:n.314G>T
NM_001145661.1:c.1197G>T , LRG_295t1:c.1197G>T	NP_001139133.1:p.Lys399Asn
NM_001145662.1:c.1155G>T	NP_001139134.1:p.Lys385Asn
NM_032638.4:c.1197G>T , LRG_295t2:c.1197G>T	NP_116027.2:p.Lys399Asn
NM_001145661.2:c.1197G>T MANE Plus Clinical	NP_001139133.1:p.Lys399Asn
NM_032638.5:c.1197G>T MANE Select	NP_116027.2:p.Lys399Asn