Canonical Allele Identifier: CA354412392

Gene: GATA2

Linked Data

• ClinVar Variation Id: 952553
• ClinVar RCV Id: RCV001224679
• dbSNP Id: rs2068619351
• MyVariant Identifiers: chr3:g.128199872G>A (hg19) ; chr3:g.128481029G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481029G>A , CM000665.2:g.128481029G>A	GRCh38
NC_000003.11:g.128199872G>A , CM000665.1:g.128199872G>A	GRCh37
NC_000003.10:g.129682562G>A	NCBI36
NG_029334.1:g.17159C>T , LRG_295:g.17159C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1433C>T MANE Plus Clinical	ENSP00000417074.1:p.Ala478Val
ENST00000696466.1:c.1715C>T	ENSP00000512647.1:p.Ala572Val
ENST00000696672.1:c.408C>T	ENSP00000512796.1:p.Arg136=
ENST00000341105.7:c.1433C>T MANE Select	ENSP00000345681.2:p.Ala478Val
ENST00000341105.6:c.1433C>T	ENSP00000345681.2:p.Ala478Val
ENST00000430265.6:c.1391C>T	ENSP00000400259.2:p.Ala464Val
ENST00000487848.5:c.1433C>T	ENSP00000417074.1:p.Ala478Val
ENST00000489987.1:n.550C>T
NM_001145661.1:c.1433C>T , LRG_295t1:c.1433C>T	NP_001139133.1:p.Ala478Val
NM_001145662.1:c.1391C>T	NP_001139134.1:p.Ala464Val
NM_032638.4:c.1433C>T , LRG_295t2:c.1433C>T	NP_116027.2:p.Ala478Val
NM_001145661.2:c.1433C>T MANE Plus Clinical	NP_001139133.1:p.Ala478Val
NM_032638.5:c.1433C>T MANE Select	NP_116027.2:p.Ala478Val