Canonical Allele Identifier: CA354413213

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481269C>T , CM000665.2:g.128481269C>T	GRCh38
NC_000003.11:g.128200112C>T , CM000665.1:g.128200112C>T	GRCh37
NC_000003.10:g.129682802C>T	NCBI36
NG_029334.1:g.16919G>A , LRG_295:g.16919G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032638.5:c.1193G>A MANE Select	NP_116027.2:p.Arg398Gln
ENST00000341105.7:c.1193G>A MANE Select	ENSP00000345681.2:p.Arg398Gln
NM_001145661.2:c.1193G>A MANE Plus Clinical	NP_001139133.1:p.Arg398Gln
ENST00000487848.6:c.1193G>A MANE Plus Clinical	ENSP00000417074.1:p.Arg398Gln
NM_001145661.1:c.1193G>A , LRG_295t1:c.1193G>A	NP_001139133.1:p.Arg398Gln
NM_001145662.1:c.1151G>A	NP_001139134.1:p.Arg384Gln
NM_032638.4:c.1193G>A , LRG_295t2:c.1193G>A	NP_116027.2:p.Arg398Gln
ENST00000341105.6:c.1193G>A	ENSP00000345681.2:p.Arg398Gln
ENST00000430265.6:c.1151G>A	ENSP00000400259.2:p.Arg384Gln
ENST00000487848.5:c.1193G>A	ENSP00000417074.1:p.Arg398Gln
ENST00000489987.1:n.310G>A
ENST00000696466.1:c.1475G>A	ENSP00000512647.1:p.Arg492Gln
ENST00000696672.1:c.168G>A	ENSP00000512796.1:p.Pro56=