Canonical Allele Identifier: CA1400713788

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481069G= , CM000665.2:g.128481069G=	GRCh38
NC_000003.11:g.128199912G= , CM000665.1:g.128199912G=	GRCh37
NC_000003.10:g.129682602G=	NCBI36
NG_029334.1:g.17119C= , LRG_295:g.17119C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1393C= MANE Plus Clinical	ENSP00000417074.1:p.Leu465=
ENST00000696466.1:c.1675C=	ENSP00000512647.1:p.Leu559=
ENST00000696672.1:c.368C=	ENSP00000512796.1:p.Pro123=
ENST00000341105.7:c.1393C= MANE Select	ENSP00000345681.2:p.Leu465=
ENST00000341105.6:c.1393C=	ENSP00000345681.2:p.Leu465=
ENST00000430265.6:c.1351C=	ENSP00000400259.2:p.Leu451=
ENST00000487848.5:c.1393C=	ENSP00000417074.1:p.Leu465=
ENST00000489987.1:n.510C=
NM_001145661.1:c.1393C= , LRG_295t1:c.1393C=	NP_001139133.1:p.Leu465=
NM_001145662.1:c.1351C=	NP_001139134.1:p.Leu451=
NM_032638.4:c.1393C= , LRG_295t2:c.1393C=	NP_116027.2:p.Leu465=
NM_001145661.2:c.1393C= MANE Plus Clinical	NP_001139133.1:p.Leu465=
NM_032638.5:c.1393C= MANE Select	NP_116027.2:p.Leu465=