Canonical Allele Identifier: CA354408751

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128486902C>A , CM000665.2:g.128486902C>A	GRCh38
NC_000003.11:g.128205745C>A , CM000665.1:g.128205745C>A	GRCh37
NC_000003.10:g.129688435C>A	NCBI36
NG_029334.1:g.11286G>T , LRG_295:g.11286G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032638.5:c.130G>T MANE Select	NP_116027.2:p.Glu44Ter
ENST00000341105.7:c.130G>T MANE Select	ENSP00000345681.2:p.Glu44Ter
NM_001145661.2:c.130G>T MANE Plus Clinical	NP_001139133.1:p.Glu44Ter
ENST00000487848.6:c.130G>T MANE Plus Clinical	ENSP00000417074.1:p.Glu44Ter
NM_001145661.1:c.130G>T , LRG_295t1:c.130G>T	NP_001139133.1:p.Glu44Ter
NM_001145662.1:c.130G>T	NP_001139134.1:p.Glu44Ter
NM_032638.4:c.130G>T , LRG_295t2:c.130G>T	NP_116027.2:p.Glu44Ter
ENST00000341105.6:c.130G>T	ENSP00000345681.2:p.Glu44Ter
ENST00000430265.6:c.130G>T	ENSP00000400259.2:p.Glu44Ter
ENST00000487848.5:c.130G>T	ENSP00000417074.1:p.Glu44Ter
ENST00000492608.1:c.130G>T	ENSP00000418132.1:p.Glu44Ter
ENST00000696466.1:c.412G>T	ENSP00000512647.1:p.Glu138Ter
ENST00000696652.1:c.130G>T	ENSP00000512781.1:p.Glu44Ter
ENST00000696653.1:c.130G>T	ENSP00000512782.1:p.Glu44Ter
ENST00000696654.1:c.130G>T	ENSP00000512783.1:p.Glu44Ter
ENST00000696661.1:c.130G>T	ENSP00000512787.1:p.Glu44Ter