Canonical Allele Identifier: CA2758339636

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481086_128481087del , CM000665.2:g.128481086_128481087del	GRCh38
NC_000003.11:g.128199929_128199930del , CM000665.1:g.128199929_128199930del	GRCh37
NC_000003.10:g.129682619_129682620del	NCBI36
NG_029334.1:g.17101_17102del , LRG_295:g.17101_17102del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1375_1376del MANE Plus Clinical	ENSP00000417074.1:p.Ile459ProfsTer?
ENST00000696466.1:c.1657_1658del	ENSP00000512647.1:p.Ile553ProfsTer?
ENST00000696672.1:c.350_351del	ENSP00000512796.1:p.His117ProfsTer18
ENST00000341105.7:c.1375_1376del MANE Select	ENSP00000345681.2:p.Ile459ProfsTer?
ENST00000341105.6:c.1375_1376del	ENSP00000345681.2:p.Ile459ProfsTer?
ENST00000430265.6:c.1333_1334del	ENSP00000400259.2:p.Ile445ProfsTer?
ENST00000487848.5:c.1375_1376del	ENSP00000417074.1:p.Ile459ProfsTer?
ENST00000489987.1:n.492_493del
NM_001145661.1:c.1375_1376del , LRG_295t1:c.1375_1376del	NP_001139133.1:p.Ile459ProfsTer?
NM_001145662.1:c.1333_1334del	NP_001139134.1:p.Ile445ProfsTer?
NM_032638.4:c.1375_1376del , LRG_295t2:c.1375_1376del	NP_116027.2:p.Ile459ProfsTer?
NM_001145661.2:c.1375_1376del MANE Plus Clinical	NP_001139133.1:p.Ile459ProfsTer?
NM_032638.5:c.1375_1376del MANE Select	NP_116027.2:p.Ile459ProfsTer?