Canonical Allele Identifier: CA354412489

Gene: GATA2

Linked Data

• ClinVar Variation Id: 435280
• ClinVar RCV Id: RCV000500353 ; RCV001857099
• dbSNP Id: rs772050518
• MyVariant Identifiers: chr3:g.128199898G>T (hg19) ; chr3:g.128481055G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481055G>T , CM000665.2:g.128481055G>T	GRCh38
NC_000003.11:g.128199898G>T , CM000665.1:g.128199898G>T	GRCh37
NC_000003.10:g.129682588G>T	NCBI36
NG_029334.1:g.17133C>A , LRG_295:g.17133C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1407C>A MANE Plus Clinical	ENSP00000417074.1:p.His469Gln
ENST00000696466.1:c.1689C>A	ENSP00000512647.1:p.His563Gln
ENST00000696672.1:c.382C>A	ENSP00000512796.1:p.Pro128Thr
ENST00000341105.7:c.1407C>A MANE Select	ENSP00000345681.2:p.His469Gln
ENST00000341105.6:c.1407C>A	ENSP00000345681.2:p.His469Gln
ENST00000430265.6:c.1365C>A	ENSP00000400259.2:p.His455Gln
ENST00000487848.5:c.1407C>A	ENSP00000417074.1:p.His469Gln
ENST00000489987.1:n.524C>A
NM_001145661.1:c.1407C>A , LRG_295t1:c.1407C>A	NP_001139133.1:p.His469Gln
NM_001145662.1:c.1365C>A	NP_001139134.1:p.His455Gln
NM_032638.4:c.1407C>A , LRG_295t2:c.1407C>A	NP_116027.2:p.His469Gln
NM_001145661.2:c.1407C>A MANE Plus Clinical	NP_001139133.1:p.His469Gln
NM_032638.5:c.1407C>A MANE Select	NP_116027.2:p.His469Gln