Canonical Allele Identifier: CA354413234

Gene: GATA2

Linked Data

• ClinVar Variation Id: 472437
• ClinVar RCV Id: RCV000529588 ; RCV000984830 ; RCV001541953
• dbSNP Id: rs1553770434
• COSMIC: COSM203766
• MyVariant Identifiers: chr3:g.128200118C>T (hg19) ; chr3:g.128481275C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481275C>T , CM000665.2:g.128481275C>T	GRCh38
NC_000003.11:g.128200118C>T , CM000665.1:g.128200118C>T	GRCh37
NC_000003.10:g.129682808C>T	NCBI36
NG_029334.1:g.16913G>A , LRG_295:g.16913G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1187G>A MANE Plus Clinical	ENSP00000417074.1:p.Arg396Gln
ENST00000696466.1:c.1469G>A	ENSP00000512647.1:p.Arg490Gln
ENST00000696672.1:c.162G>A	ENSP00000512796.1:p.Ser54=
ENST00000341105.7:c.1187G>A MANE Select	ENSP00000345681.2:p.Arg396Gln
ENST00000341105.6:c.1187G>A	ENSP00000345681.2:p.Arg396Gln
ENST00000430265.6:c.1145G>A	ENSP00000400259.2:p.Arg382Gln
ENST00000487848.5:c.1187G>A	ENSP00000417074.1:p.Arg396Gln
ENST00000489987.1:n.304G>A
NM_001145661.1:c.1187G>A , LRG_295t1:c.1187G>A	NP_001139133.1:p.Arg396Gln
NM_001145662.1:c.1145G>A	NP_001139134.1:p.Arg382Gln
NM_032638.4:c.1187G>A , LRG_295t2:c.1187G>A	NP_116027.2:p.Arg396Gln
NM_001145661.2:c.1187G>A MANE Plus Clinical	NP_001139133.1:p.Arg396Gln
NM_032638.5:c.1187G>A MANE Select	NP_116027.2:p.Arg396Gln