Canonical Allele Identifier: CA2565122672

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481064_128481067del , CM000665.2:g.128481064_128481067del	GRCh38
NC_000003.11:g.128199907_128199910del , CM000665.1:g.128199907_128199910del	GRCh37
NC_000003.10:g.129682597_129682600del	NCBI36
NG_029334.1:g.17121_17124del , LRG_295:g.17121_17124del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1395_1398del MANE Plus Clinical	ENSP00000417074.1:p.Phe467AlafsTer9
ENST00000696466.1:c.1677_1680del	ENSP00000512647.1:p.Phe561AlafsTer9
ENST00000696672.1:c.370_373del	ENSP00000512796.1:p.Leu124PhefsTer15
ENST00000341105.7:c.1395_1398del MANE Select	ENSP00000345681.2:p.Phe467AlafsTer9
ENST00000341105.6:c.1395_1398del	ENSP00000345681.2:p.Phe467AlafsTer9
ENST00000430265.6:c.1353_1356del	ENSP00000400259.2:p.Phe453AlafsTer9
ENST00000487848.5:c.1395_1398del	ENSP00000417074.1:p.Phe467AlafsTer9
ENST00000489987.1:n.512_515del
NM_001145661.1:c.1395_1398del , LRG_295t1:c.1395_1398del	NP_001139133.1:p.Phe467AlafsTer9
NM_001145662.1:c.1353_1356del	NP_001139134.1:p.Phe453AlafsTer9
NM_032638.4:c.1395_1398del , LRG_295t2:c.1395_1398del	NP_116027.2:p.Phe467AlafsTer9
NM_001145661.2:c.1395_1398del MANE Plus Clinical	NP_001139133.1:p.Phe467AlafsTer9
NM_032638.5:c.1395_1398del MANE Select	NP_116027.2:p.Phe467AlafsTer9