Canonical Allele Identifier: CA128593

Gene: GATA2

Linked Data

• ClinVar Variation Id: 29721
• ClinVar RCV Id: RCV000022573 ; RCV001542238
• dbSNP Id: rs387906634
• MyVariant Identifiers: chr3:g.128200723C>A (hg19) ; chr3:g.128481880C>A (hg38)
• PubMed: PMID:21892158

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481880C>A , CM000665.2:g.128481880C>A	GRCh38
NC_000003.11:g.128200723C>A , CM000665.1:g.128200723C>A	GRCh37
NC_000003.10:g.129683413C>A	NCBI36
NG_029334.1:g.16308G>T , LRG_295:g.16308G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1082G>T MANE Plus Clinical	ENSP00000417074.1:p.Arg361Leu
ENST00000696466.1:c.1364G>T	ENSP00000512647.1:p.Arg455Leu
ENST00000696672.1:c.65G>T	ENSP00000512796.1:p.Arg22Leu
ENST00000341105.7:c.1082G>T MANE Select	ENSP00000345681.2:p.Arg361Leu
ENST00000341105.6:c.1082G>T	ENSP00000345681.2:p.Arg361Leu
ENST00000430265.6:c.1040G>T	ENSP00000400259.2:p.Arg347Leu
ENST00000487848.5:c.1082G>T	ENSP00000417074.1:p.Arg361Leu
ENST00000489987.1:n.199G>T
NM_001145661.1:c.1082G>T , LRG_295t1:c.1082G>T	NP_001139133.1:p.Arg361Leu
NM_001145662.1:c.1040G>T	NP_001139134.1:p.Arg347Leu
NM_032638.4:c.1082G>T , LRG_295t2:c.1082G>T	NP_116027.2:p.Arg361Leu
NM_001145661.2:c.1082G>T MANE Plus Clinical	NP_001139133.1:p.Arg361Leu
NM_032638.5:c.1082G>T MANE Select	NP_116027.2:p.Arg361Leu