Canonical Allele Identifier: CA1400713190

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128480577_128480579delinsCCA , CM000665.2:g.128480577_128480579delinsCCA	GRCh38
NC_000003.11:g.128199420_128199422delinsCCA , CM000665.1:g.128199420_128199422delinsCCA	GRCh37
NC_000003.10:g.129682110_129682112delinsCCA	NCBI36
NG_029334.1:g.17609_17611delinsTGG , LRG_295:g.17609_17611delinsTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.*440_*442delinsTGG MANE Plus Clinical	ENSP00000417074.1:n.*440_*442delinsTGG
ENST00000696466.1:c.*440_*442delinsTGG	ENSP00000512647.1:n.*440_*442delinsTGG
ENST00000696672.1:c.858_860delinsTGG	ENSP00000512796.1:n.858_860delinsTGG
ENST00000341105.7:c.*440_*442delinsTGG MANE Select	ENSP00000345681.2:n.*440_*442delinsTGG
ENST00000341105.6:c.*440_*442delinsTGG	ENSP00000345681.2:n.*440_*442delinsTGG
ENST00000430265.6:c.*440_*442delinsTGG	ENSP00000400259.2:n.*440_*442delinsTGG
ENST00000489987.1:n.1000_1002delinsTGG
NM_001145661.1:c.*440_*442delinsTGG , LRG_295t1:c.*440_*442delinsTGG	NP_001139133.1:n.*440_*442delinsTGG
NM_001145662.1:c.*440_*442delinsTGG	NP_001139134.1:n.*440_*442delinsTGG
NM_032638.4:c.*440_*442delinsTGG , LRG_295t2:c.*440_*442delinsTGG	NP_116027.2:n.*440_*442delinsTGG
NM_001145661.2:c.*440_*442delinsTGG MANE Plus Clinical	NP_001139133.1:n.*440_*442delinsTGG
NM_032638.5:c.*440_*442delinsTGG MANE Select	NP_116027.2:n.*440_*442delinsTGG