Canonical Allele Identifier: CA435525079

Gene: GATA2

Linked Data

• COSMIC: COSM5727619
• MyVariant Identifiers: chr3:g.128200108C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1197G>A MANE Plus Clinical	ENSP00000417074.1:p.Lys399=
ENST00000696466.1:c.1479G>A	ENSP00000512647.1:p.Lys493=
ENST00000696672.1:c.172G>A	ENSP00000512796.1:p.Asp58Asn
ENST00000341105.7:c.1197G>A MANE Select	ENSP00000345681.2:p.Lys399=
ENST00000341105.6:c.1197G>A	ENSP00000345681.2:p.Lys399=
ENST00000430265.6:c.1155G>A	ENSP00000400259.2:p.Lys385=
ENST00000487848.5:c.1197G>A	ENSP00000417074.1:p.Lys399=
ENST00000489987.1:n.314G>A
NM_001145661.1:c.1197G>A , LRG_295t1:c.1197G>A	NP_001139133.1:p.Lys399=
NM_001145662.1:c.1155G>A	NP_001139134.1:p.Lys385=
NM_032638.4:c.1197G>A , LRG_295t2:c.1197G>A	NP_116027.2:p.Lys399=
NM_001145661.2:c.1197G>A MANE Plus Clinical	NP_001139133.1:p.Lys399=
NM_032638.5:c.1197G>A MANE Select	NP_116027.2:p.Lys399=